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Items: 1 to 20 of 760

1.

rs1490791838 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:178384057 (GRCh38)
    2:179248784 (GRCh37)
    Canonical SPDI:
    NC_000002.12:178384056:G:A
    Gene:
    OSBPL6 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.178384057G>A, NC_000002.11:g.179248784G>A, NM_032523.4:c.1894G>A, NM_032523.3:c.1894G>A, XM_017003265.3:c.2035G>A, XM_017003265.2:c.2035G>A, XM_017003265.1:c.2035G>A, XM_017003267.3:c.1969G>A, XM_017003267.2:c.1969G>A, XM_017003267.1:c.1969G>A, XM_011510539.3:c.1876G>A, XM_011510539.2:c.1876G>A, XM_011510539.1:c.1876G>A, XM_017003268.3:c.1861G>A, XM_017003268.2:c.1861G>A, XM_017003268.1:c.1861G>A, XM_017003269.3:c.1861G>A, XM_017003269.2:c.1861G>A, XM_017003269.1:c.1861G>A, XM_017003272.3:c.1768G>A, XM_017003272.2:c.1768G>A, XM_017003272.1:c.1768G>A, XM_017003271.3:c.1786G>A, XM_017003271.2:c.1786G>A, XM_017003271.1:c.1786G>A, XM_017003273.3:c.1708G>A, XM_017003273.2:c.1708G>A, XM_017003273.1:c.1708G>A, XM_017003276.3:c.1693G>A, XM_017003276.2:c.1693G>A, XM_017003276.1:c.1693G>A, XM_017003274.3:c.1693G>A, XM_017003274.2:c.1693G>A, XM_017003274.1:c.1693G>A, XM_017003277.3:c.1600G>A, XM_017003277.2:c.1600G>A, XM_017003277.1:c.1600G>A, NM_145739.3:c.1906G>A, NM_145739.2:c.1906G>A, XM_017003266.2:c.1969G>A, XM_017003266.1:c.1969G>A, NM_001201480.2:c.1969G>A, NM_001201480.1:c.1969G>A, NM_001201481.2:c.1801G>A, NM_001201481.1:c.1801G>A, NM_001201482.2:c.1786G>A, NM_001201482.1:c.1786G>A, XM_047443123.1:c.2035G>A, XM_047443129.1:c.1894G>A, XM_047443124.1:c.1969G>A, XM_047443149.1:c.1861G>A, XM_047443126.1:c.1894G>A, XM_047443127.1:c.1894G>A, XM_047443125.1:c.1960G>A, XM_047443145.1:c.1876G>A, XM_047443144.1:c.1876G>A, XM_047443132.1:c.1894G>A, XM_047443130.1:c.1894G>A, XM_047443156.1:c.1801G>A, XM_047443152.1:c.1801G>A, XM_047443153.1:c.1801G>A, XM_047443146.1:c.1876G>A, XM_047443147.1:c.1867G>A, XM_047443134.1:c.1876G>A, XM_047443159.1:c.1786G>A, XM_047443160.1:c.1786G>A, XM_047443150.1:c.1861G>A, XM_047443131.1:c.1894G>A, XM_047443154.1:c.1801G>A, XM_047443151.1:c.1801G>A, XM_047443161.1:c.1783G>A, XM_047443162.1:c.1768G>A, XM_047443158.1:c.1801G>A, XM_047443155.1:c.1801G>A, XM_047443165.1:c.1693G>A, XM_047443163.1:c.1708G>A, XM_047443166.1:c.1693G>A, XM_047443168.1:c.1600G>A, XM_047443167.1:c.1618G>A, NP_115912.1:p.Ala632Thr, XP_016858754.1:p.Ala679Thr, XP_016858756.1:p.Ala657Thr, XP_011508841.1:p.Ala626Thr, XP_016858757.1:p.Ala621Thr, XP_016858758.1:p.Ala621Thr, XP_016858761.1:p.Ala590Thr, XP_016858760.1:p.Ala596Thr, XP_016858762.1:p.Ala570Thr, XP_016858765.1:p.Ala565Thr, XP_016858763.1:p.Ala565Thr, XP_016858766.1:p.Ala534Thr, NP_665682.1:p.Ala636Thr, XP_016858755.1:p.Ala657Thr, NP_001188409.1:p.Ala657Thr, NP_001188410.1:p.Ala601Thr, NP_001188411.1:p.Ala596Thr, XP_047299079.1:p.Ala679Thr, XP_047299085.1:p.Ala632Thr, XP_047299080.1:p.Ala657Thr, XP_047299105.1:p.Ala621Thr, XP_047299082.1:p.Ala632Thr, XP_047299083.1:p.Ala632Thr, XP_047299081.1:p.Ala654Thr, XP_047299101.1:p.Ala626Thr, XP_047299100.1:p.Ala626Thr, XP_047299088.1:p.Ala632Thr, XP_047299086.1:p.Ala632Thr, XP_047299112.1:p.Ala601Thr, XP_047299108.1:p.Ala601Thr, XP_047299109.1:p.Ala601Thr, XP_047299102.1:p.Ala626Thr, XP_047299103.1:p.Ala623Thr, XP_047299090.1:p.Ala626Thr, XP_047299115.1:p.Ala596Thr, XP_047299116.1:p.Ala596Thr, XP_047299106.1:p.Ala621Thr, XP_047299087.1:p.Ala632Thr, XP_047299110.1:p.Ala601Thr, XP_047299107.1:p.Ala601Thr, XP_047299117.1:p.Ala595Thr, XP_047299118.1:p.Ala590Thr, XP_047299114.1:p.Ala601Thr, XP_047299111.1:p.Ala601Thr, XP_047299121.1:p.Ala565Thr, XP_047299119.1:p.Ala570Thr, XP_047299122.1:p.Ala565Thr, XP_047299124.1:p.Ala534Thr, XP_047299123.1:p.Ala540Thr

    2.

    rs1488577924 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      2:178349282 (GRCh38)
      2:179214009 (GRCh37)
      Canonical SPDI:
      NC_000002.12:178349281:G:C
      Gene:
      OSBPL6 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.178349282G>C, NC_000002.11:g.179214009G>C, NM_032523.4:c.1046G>C, NM_032523.3:c.1046G>C, XM_017003265.3:c.1187G>C, XM_017003265.2:c.1187G>C, XM_017003265.1:c.1187G>C, XM_017003267.3:c.1121G>C, XM_017003267.2:c.1121G>C, XM_017003267.1:c.1121G>C, XM_011510539.3:c.1028G>C, XM_011510539.2:c.1028G>C, XM_011510539.1:c.1028G>C, XM_017003268.3:c.1121G>C, XM_017003268.2:c.1121G>C, XM_017003268.1:c.1121G>C, XM_017003269.3:c.1121G>C, XM_017003269.2:c.1121G>C, XM_017003269.1:c.1121G>C, XM_017003272.3:c.1028G>C, XM_017003272.2:c.1028G>C, XM_017003272.1:c.1028G>C, XM_017003271.3:c.1046G>C, XM_017003271.2:c.1046G>C, XM_017003271.1:c.1046G>C, XM_017003273.3:c.860G>C, XM_017003273.2:c.860G>C, XM_017003273.1:c.860G>C, XM_017003276.3:c.953G>C, XM_017003276.2:c.953G>C, XM_017003276.1:c.953G>C, XM_017003274.3:c.953G>C, XM_017003274.2:c.953G>C, XM_017003274.1:c.953G>C, XM_017003277.3:c.860G>C, XM_017003277.2:c.860G>C, XM_017003277.1:c.860G>C, NM_145739.3:c.1058G>C, NM_145739.2:c.1058G>C, XM_017003266.2:c.1121G>C, XM_017003266.1:c.1121G>C, NM_001201480.2:c.1121G>C, NM_001201480.1:c.1121G>C, NM_001201481.2:c.953G>C, NM_001201481.1:c.953G>C, NM_001201482.2:c.1046G>C, NM_001201482.1:c.1046G>C, XM_047443123.1:c.1187G>C, XM_047443129.1:c.1046G>C, XM_047443124.1:c.1121G>C, XM_047443149.1:c.1121G>C, XM_047443126.1:c.1046G>C, XM_047443127.1:c.1046G>C, XM_047443125.1:c.1112G>C, XM_047443145.1:c.1028G>C, XM_047443144.1:c.1028G>C, XM_047443132.1:c.1046G>C, XM_047443130.1:c.1046G>C, XM_047443156.1:c.953G>C, XM_047443152.1:c.953G>C, XM_047443153.1:c.953G>C, XM_047443146.1:c.1028G>C, XM_047443147.1:c.1019G>C, XM_047443134.1:c.1028G>C, XM_047443159.1:c.1046G>C, XM_047443160.1:c.1046G>C, XM_047443150.1:c.1121G>C, XM_047443131.1:c.1046G>C, XM_047443154.1:c.953G>C, XM_047443151.1:c.953G>C, XM_047443161.1:c.935G>C, XM_047443162.1:c.1028G>C, XM_047443158.1:c.953G>C, XM_047443155.1:c.953G>C, XM_047443165.1:c.953G>C, XM_047443163.1:c.860G>C, XM_047443166.1:c.953G>C, XM_047443168.1:c.860G>C, XM_047443167.1:c.770G>C, XM_047443169.1:c.953G>C, NP_115912.1:p.Cys349Ser, XP_016858754.1:p.Cys396Ser, XP_016858756.1:p.Cys374Ser, XP_011508841.1:p.Cys343Ser, XP_016858757.1:p.Cys374Ser, XP_016858758.1:p.Cys374Ser, XP_016858761.1:p.Cys343Ser, XP_016858760.1:p.Cys349Ser, XP_016858762.1:p.Cys287Ser, XP_016858765.1:p.Cys318Ser, XP_016858763.1:p.Cys318Ser, XP_016858766.1:p.Cys287Ser, NP_665682.1:p.Cys353Ser, XP_016858755.1:p.Cys374Ser, NP_001188409.1:p.Cys374Ser, NP_001188410.1:p.Cys318Ser, NP_001188411.1:p.Cys349Ser, XP_047299079.1:p.Cys396Ser, XP_047299085.1:p.Cys349Ser, XP_047299080.1:p.Cys374Ser, XP_047299105.1:p.Cys374Ser, XP_047299082.1:p.Cys349Ser, XP_047299083.1:p.Cys349Ser, XP_047299081.1:p.Cys371Ser, XP_047299101.1:p.Cys343Ser, XP_047299100.1:p.Cys343Ser, XP_047299088.1:p.Cys349Ser, XP_047299086.1:p.Cys349Ser, XP_047299112.1:p.Cys318Ser, XP_047299108.1:p.Cys318Ser, XP_047299109.1:p.Cys318Ser, XP_047299102.1:p.Cys343Ser, XP_047299103.1:p.Cys340Ser, XP_047299090.1:p.Cys343Ser, XP_047299115.1:p.Cys349Ser, XP_047299116.1:p.Cys349Ser, XP_047299106.1:p.Cys374Ser, XP_047299087.1:p.Cys349Ser, XP_047299110.1:p.Cys318Ser, XP_047299107.1:p.Cys318Ser, XP_047299117.1:p.Cys312Ser, XP_047299118.1:p.Cys343Ser, XP_047299114.1:p.Cys318Ser, XP_047299111.1:p.Cys318Ser, XP_047299121.1:p.Cys318Ser, XP_047299119.1:p.Cys287Ser, XP_047299122.1:p.Cys318Ser, XP_047299124.1:p.Cys287Ser, XP_047299123.1:p.Cys257Ser, XP_047299125.1:p.Cys318Ser

      3.

      rs1487632826 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:178339744 (GRCh38)
        2:179204471 (GRCh37)
        Canonical SPDI:
        NC_000002.12:178339743:G:A
        Gene:
        OSBPL6 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        HGVS:
        NC_000002.12:g.178339744G>A, NC_000002.11:g.179204471G>A, NM_032523.4:c.967G>A, NM_032523.3:c.967G>A, XM_017003265.3:c.1033G>A, XM_017003265.2:c.1033G>A, XM_017003265.1:c.1033G>A, XM_017003267.3:c.967G>A, XM_017003267.2:c.967G>A, XM_017003267.1:c.967G>A, XM_011510539.3:c.874G>A, XM_011510539.2:c.874G>A, XM_011510539.1:c.874G>A, XM_017003268.3:c.967G>A, XM_017003268.2:c.967G>A, XM_017003268.1:c.967G>A, XM_017003269.3:c.967G>A, XM_017003269.2:c.967G>A, XM_017003269.1:c.967G>A, XM_017003272.3:c.874G>A, XM_017003272.2:c.874G>A, XM_017003272.1:c.874G>A, XM_017003271.3:c.967G>A, XM_017003271.2:c.967G>A, XM_017003271.1:c.967G>A, XM_017003276.3:c.874G>A, XM_017003276.2:c.874G>A, XM_017003276.1:c.874G>A, NM_145739.3:c.904G>A, NM_145739.2:c.904G>A, XM_017003266.2:c.967G>A, XM_017003266.1:c.967G>A, NM_001201480.2:c.967G>A, NM_001201480.1:c.967G>A, NM_001201482.2:c.967G>A, NM_001201482.1:c.967G>A, XM_047443123.1:c.1033G>A, XM_047443129.1:c.967G>A, XM_047443124.1:c.967G>A, XM_047443149.1:c.967G>A, XM_047443126.1:c.967G>A, XM_047443127.1:c.967G>A, XM_047443125.1:c.1033G>A, XM_047443145.1:c.874G>A, XM_047443132.1:c.967G>A, XM_047443130.1:c.967G>A, XM_047443156.1:c.874G>A, XM_047443146.1:c.874G>A, XM_047443159.1:c.967G>A, XM_047443160.1:c.967G>A, XM_047443150.1:c.967G>A, XM_047443131.1:c.967G>A, XM_047443151.1:c.874G>A, XM_047443158.1:c.874G>A, XM_047443167.1:c.691G>A, NP_115912.1:p.Asp323Asn, XP_016858754.1:p.Asp345Asn, XP_016858756.1:p.Asp323Asn, XP_011508841.1:p.Asp292Asn, XP_016858757.1:p.Asp323Asn, XP_016858758.1:p.Asp323Asn, XP_016858761.1:p.Asp292Asn, XP_016858760.1:p.Asp323Asn, XP_016858765.1:p.Asp292Asn, NP_665682.1:p.Asp302Asn, XP_016858755.1:p.Asp323Asn, NP_001188409.1:p.Asp323Asn, NP_001188411.1:p.Asp323Asn, XP_047299079.1:p.Asp345Asn, XP_047299085.1:p.Asp323Asn, XP_047299080.1:p.Asp323Asn, XP_047299105.1:p.Asp323Asn, XP_047299082.1:p.Asp323Asn, XP_047299083.1:p.Asp323Asn, XP_047299081.1:p.Asp345Asn, XP_047299101.1:p.Asp292Asn, XP_047299088.1:p.Asp323Asn, XP_047299086.1:p.Asp323Asn, XP_047299112.1:p.Asp292Asn, XP_047299102.1:p.Asp292Asn, XP_047299115.1:p.Asp323Asn, XP_047299116.1:p.Asp323Asn, XP_047299106.1:p.Asp323Asn, XP_047299087.1:p.Asp323Asn, XP_047299107.1:p.Asp292Asn, XP_047299114.1:p.Asp292Asn, XP_047299123.1:p.Asp231Asn

        4.

        rs1486272138 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          2:178383245 (GRCh38)
          2:179247972 (GRCh37)
          Canonical SPDI:
          NC_000002.12:178383244:G:T
          Gene:
          OSBPL6 (Varview)
          Functional Consequence:
          downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000142/2 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000019/5 (TOPMED)
          HGVS:
          NC_000002.12:g.178383245G>T, NC_000002.11:g.179247972G>T, NM_032523.4:c.1843G>T, NM_032523.3:c.1843G>T, XM_017003265.3:c.1984G>T, XM_017003265.2:c.1984G>T, XM_017003265.1:c.1984G>T, XM_017003267.3:c.1918G>T, XM_017003267.2:c.1918G>T, XM_017003267.1:c.1918G>T, XM_011510539.3:c.1825G>T, XM_011510539.2:c.1825G>T, XM_011510539.1:c.1825G>T, XM_017003268.3:c.1810G>T, XM_017003268.2:c.1810G>T, XM_017003268.1:c.1810G>T, XM_017003269.3:c.1810G>T, XM_017003269.2:c.1810G>T, XM_017003269.1:c.1810G>T, XM_017003272.3:c.1717G>T, XM_017003272.2:c.1717G>T, XM_017003272.1:c.1717G>T, XM_017003271.3:c.1735G>T, XM_017003271.2:c.1735G>T, XM_017003271.1:c.1735G>T, XM_017003273.3:c.1657G>T, XM_017003273.2:c.1657G>T, XM_017003273.1:c.1657G>T, XM_017003276.3:c.1642G>T, XM_017003276.2:c.1642G>T, XM_017003276.1:c.1642G>T, XM_017003274.3:c.1642G>T, XM_017003274.2:c.1642G>T, XM_017003274.1:c.1642G>T, XM_017003277.3:c.1549G>T, XM_017003277.2:c.1549G>T, XM_017003277.1:c.1549G>T, NM_145739.3:c.1855G>T, NM_145739.2:c.1855G>T, XM_017003266.2:c.1918G>T, XM_017003266.1:c.1918G>T, NM_001201480.2:c.1918G>T, NM_001201480.1:c.1918G>T, NM_001201481.2:c.1750G>T, NM_001201481.1:c.1750G>T, NM_001201482.2:c.1735G>T, NM_001201482.1:c.1735G>T, XM_047443123.1:c.1984G>T, XM_047443129.1:c.1843G>T, XM_047443124.1:c.1918G>T, XM_047443149.1:c.1810G>T, XM_047443126.1:c.1843G>T, XM_047443127.1:c.1843G>T, XM_047443125.1:c.1909G>T, XM_047443145.1:c.1825G>T, XM_047443144.1:c.1825G>T, XM_047443132.1:c.1843G>T, XM_047443130.1:c.1843G>T, XM_047443156.1:c.1750G>T, XM_047443152.1:c.1750G>T, XM_047443153.1:c.1750G>T, XM_047443146.1:c.1825G>T, XM_047443147.1:c.1816G>T, XM_047443134.1:c.1825G>T, XM_047443159.1:c.1735G>T, XM_047443160.1:c.1735G>T, XM_047443150.1:c.1810G>T, XM_047443131.1:c.1843G>T, XM_047443154.1:c.1750G>T, XM_047443151.1:c.1750G>T, XM_047443161.1:c.1732G>T, XM_047443162.1:c.1717G>T, XM_047443158.1:c.1750G>T, XM_047443155.1:c.1750G>T, XM_047443165.1:c.1642G>T, XM_047443163.1:c.1657G>T, XM_047443166.1:c.1642G>T, XM_047443168.1:c.1549G>T, XM_047443167.1:c.1567G>T, NP_115912.1:p.Ala615Ser, XP_016858754.1:p.Ala662Ser, XP_016858756.1:p.Ala640Ser, XP_011508841.1:p.Ala609Ser, XP_016858757.1:p.Ala604Ser, XP_016858758.1:p.Ala604Ser, XP_016858761.1:p.Ala573Ser, XP_016858760.1:p.Ala579Ser, XP_016858762.1:p.Ala553Ser, XP_016858765.1:p.Ala548Ser, XP_016858763.1:p.Ala548Ser, XP_016858766.1:p.Ala517Ser, NP_665682.1:p.Ala619Ser, XP_016858755.1:p.Ala640Ser, NP_001188409.1:p.Ala640Ser, NP_001188410.1:p.Ala584Ser, NP_001188411.1:p.Ala579Ser, XP_047299079.1:p.Ala662Ser, XP_047299085.1:p.Ala615Ser, XP_047299080.1:p.Ala640Ser, XP_047299105.1:p.Ala604Ser, XP_047299082.1:p.Ala615Ser, XP_047299083.1:p.Ala615Ser, XP_047299081.1:p.Ala637Ser, XP_047299101.1:p.Ala609Ser, XP_047299100.1:p.Ala609Ser, XP_047299088.1:p.Ala615Ser, XP_047299086.1:p.Ala615Ser, XP_047299112.1:p.Ala584Ser, XP_047299108.1:p.Ala584Ser, XP_047299109.1:p.Ala584Ser, XP_047299102.1:p.Ala609Ser, XP_047299103.1:p.Ala606Ser, XP_047299090.1:p.Ala609Ser, XP_047299115.1:p.Ala579Ser, XP_047299116.1:p.Ala579Ser, XP_047299106.1:p.Ala604Ser, XP_047299087.1:p.Ala615Ser, XP_047299110.1:p.Ala584Ser, XP_047299107.1:p.Ala584Ser, XP_047299117.1:p.Ala578Ser, XP_047299118.1:p.Ala573Ser, XP_047299114.1:p.Ala584Ser, XP_047299111.1:p.Ala584Ser, XP_047299121.1:p.Ala548Ser, XP_047299119.1:p.Ala553Ser, XP_047299122.1:p.Ala548Ser, XP_047299124.1:p.Ala517Ser, XP_047299123.1:p.Ala523Ser

          5.

          rs1486004757 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:178328346 (GRCh38)
            2:179193073 (GRCh37)
            Canonical SPDI:
            NC_000002.12:178328345:A:G
            Gene:
            OSBPL6 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.178328346A>G, NC_000002.11:g.179193073A>G, NM_032523.4:c.286A>G, NM_032523.3:c.286A>G, XM_017003265.3:c.352A>G, XM_017003265.2:c.352A>G, XM_017003265.1:c.352A>G, XM_017003267.3:c.286A>G, XM_017003267.2:c.286A>G, XM_017003267.1:c.286A>G, XM_011510539.3:c.193A>G, XM_011510539.2:c.193A>G, XM_011510539.1:c.193A>G, XM_017003268.3:c.286A>G, XM_017003268.2:c.286A>G, XM_017003268.1:c.286A>G, XM_017003269.3:c.286A>G, XM_017003269.2:c.286A>G, XM_017003269.1:c.286A>G, XM_017003272.3:c.193A>G, XM_017003272.2:c.193A>G, XM_017003272.1:c.193A>G, XM_017003271.3:c.286A>G, XM_017003271.2:c.286A>G, XM_017003271.1:c.286A>G, XM_017003273.3:c.193A>G, XM_017003273.2:c.193A>G, XM_017003273.1:c.193A>G, XM_017003276.3:c.193A>G, XM_017003276.2:c.193A>G, XM_017003276.1:c.193A>G, XM_017003274.3:c.286A>G, XM_017003274.2:c.286A>G, XM_017003274.1:c.286A>G, XM_017003277.3:c.193A>G, XM_017003277.2:c.193A>G, XM_017003277.1:c.193A>G, NM_145739.3:c.223A>G, NM_145739.2:c.223A>G, XM_017003266.2:c.286A>G, XM_017003266.1:c.286A>G, NM_001201480.2:c.286A>G, NM_001201480.1:c.286A>G, NM_001201481.2:c.286A>G, NM_001201481.1:c.286A>G, NM_001201482.2:c.286A>G, NM_001201482.1:c.286A>G, XM_047443123.1:c.352A>G, XM_047443129.1:c.286A>G, XM_047443124.1:c.286A>G, XM_047443149.1:c.286A>G, XM_047443126.1:c.286A>G, XM_047443127.1:c.286A>G, XM_047443125.1:c.352A>G, XM_047443145.1:c.193A>G, XM_047443144.1:c.286A>G, XM_047443132.1:c.286A>G, XM_047443130.1:c.286A>G, XM_047443156.1:c.193A>G, XM_047443152.1:c.286A>G, XM_047443153.1:c.286A>G, XM_047443146.1:c.193A>G, XM_047443147.1:c.352A>G, XM_047443134.1:c.286A>G, XM_047443159.1:c.286A>G, XM_047443160.1:c.286A>G, XM_047443150.1:c.286A>G, XM_047443131.1:c.286A>G, XM_047443154.1:c.286A>G, XM_047443151.1:c.193A>G, XM_047443161.1:c.193A>G, XM_047443162.1:c.286A>G, XM_047443158.1:c.193A>G, XM_047443155.1:c.286A>G, XM_047443165.1:c.286A>G, XM_047443163.1:c.193A>G, XM_047443166.1:c.286A>G, XM_047443168.1:c.193A>G, XM_047443167.1:c.10A>G, XM_047443169.1:c.286A>G, NP_115912.1:p.Lys96Glu, XP_016858754.1:p.Lys118Glu, XP_016858756.1:p.Lys96Glu, XP_011508841.1:p.Lys65Glu, XP_016858757.1:p.Lys96Glu, XP_016858758.1:p.Lys96Glu, XP_016858761.1:p.Lys65Glu, XP_016858760.1:p.Lys96Glu, XP_016858762.1:p.Lys65Glu, XP_016858765.1:p.Lys65Glu, XP_016858763.1:p.Lys96Glu, XP_016858766.1:p.Lys65Glu, NP_665682.1:p.Lys75Glu, XP_016858755.1:p.Lys96Glu, NP_001188409.1:p.Lys96Glu, NP_001188410.1:p.Lys96Glu, NP_001188411.1:p.Lys96Glu, XP_047299079.1:p.Lys118Glu, XP_047299085.1:p.Lys96Glu, XP_047299080.1:p.Lys96Glu, XP_047299105.1:p.Lys96Glu, XP_047299082.1:p.Lys96Glu, XP_047299083.1:p.Lys96Glu, XP_047299081.1:p.Lys118Glu, XP_047299101.1:p.Lys65Glu, XP_047299100.1:p.Lys96Glu, XP_047299088.1:p.Lys96Glu, XP_047299086.1:p.Lys96Glu, XP_047299112.1:p.Lys65Glu, XP_047299108.1:p.Lys96Glu, XP_047299109.1:p.Lys96Glu, XP_047299102.1:p.Lys65Glu, XP_047299103.1:p.Lys118Glu, XP_047299090.1:p.Lys96Glu, XP_047299115.1:p.Lys96Glu, XP_047299116.1:p.Lys96Glu, XP_047299106.1:p.Lys96Glu, XP_047299087.1:p.Lys96Glu, XP_047299110.1:p.Lys96Glu, XP_047299107.1:p.Lys65Glu, XP_047299117.1:p.Lys65Glu, XP_047299118.1:p.Lys96Glu, XP_047299114.1:p.Lys65Glu, XP_047299111.1:p.Lys96Glu, XP_047299121.1:p.Lys96Glu, XP_047299119.1:p.Lys65Glu, XP_047299122.1:p.Lys96Glu, XP_047299124.1:p.Lys65Glu, XP_047299123.1:p.Lys4Glu, XP_047299125.1:p.Lys96Glu

            6.

            rs1485230517 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              2:178395555 (GRCh38)
              2:179260282 (GRCh37)
              Canonical SPDI:
              NC_000002.12:178395554:GG:G
              Gene:
              OSBPL6 (Varview)
              Functional Consequence:
              frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              -=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.178395556del, NC_000002.11:g.179260283del, NM_032523.4:c.2802del, NM_032523.3:c.2802del, XM_017003265.3:c.2943del, XM_017003265.2:c.2943del, XM_017003265.1:c.2943del, XM_017003267.3:c.2877del, XM_017003267.2:c.2877del, XM_017003267.1:c.2877del, XM_011510539.3:c.2784del, XM_011510539.2:c.2784del, XM_011510539.1:c.2784del, XM_017003268.3:c.2769del, XM_017003268.2:c.2769del, XM_017003268.1:c.2769del, XM_017003269.3:c.2769del, XM_017003269.2:c.2769del, XM_017003269.1:c.2769del, XM_017003272.3:c.2676del, XM_017003272.2:c.2676del, XM_017003272.1:c.2676del, XM_017003271.3:c.2694del, XM_017003271.2:c.2694del, XM_017003271.1:c.2694del, XM_017003273.3:c.2616del, XM_017003273.2:c.2616del, XM_017003273.1:c.2616del, XM_017003276.3:c.2601del, XM_017003276.2:c.2601del, XM_017003276.1:c.2601del, XM_017003274.3:c.2601del, XM_017003274.2:c.2601del, XM_017003274.1:c.2601del, XM_017003277.3:c.2508del, XM_017003277.2:c.2508del, XM_017003277.1:c.2508del, NM_145739.3:c.2814del, NM_145739.2:c.2814del, XM_017003266.2:c.2877del, XM_017003266.1:c.2877del, NM_001201480.2:c.2877del, NM_001201480.1:c.2877del, NM_001201481.2:c.2709del, NM_001201481.1:c.2709del, NM_001201482.2:c.2694del, NM_001201482.1:c.2694del, XM_047443123.1:c.2943del, XM_047443129.1:c.2802del, XM_047443124.1:c.2877del, XM_047443149.1:c.2769del, XM_047443126.1:c.2802del, XM_047443127.1:c.2802del, XM_047443125.1:c.2868del, XM_047443145.1:c.2784del, XM_047443144.1:c.2784del, XM_047443132.1:c.2802del, XM_047443130.1:c.2802del, XM_047443156.1:c.2709del, XM_047443152.1:c.2709del, XM_047443153.1:c.2709del, XM_047443146.1:c.2784del, XM_047443147.1:c.2775del, XM_047443134.1:c.2784del, XM_047443159.1:c.2694del, XM_047443160.1:c.2694del, XM_047443150.1:c.2769del, XM_047443131.1:c.2802del, XM_047443154.1:c.2709del, XM_047443151.1:c.2709del, XM_047443161.1:c.2691del, XM_047443162.1:c.2676del, XM_047443158.1:c.2709del, XM_047443155.1:c.2709del, XM_047443165.1:c.2601del, XM_047443163.1:c.2616del, XM_047443166.1:c.2601del, XM_047443168.1:c.2508del, XM_047443167.1:c.2526del, NP_115912.1:p.Trp934fs, XP_016858754.1:p.Trp981fs, XP_016858756.1:p.Trp959fs, XP_011508841.1:p.Trp928fs, XP_016858757.1:p.Trp923fs, XP_016858758.1:p.Trp923fs, XP_016858761.1:p.Trp892fs, XP_016858760.1:p.Trp898fs, XP_016858762.1:p.Trp872fs, XP_016858765.1:p.Trp867fs, XP_016858763.1:p.Trp867fs, XP_016858766.1:p.Trp836fs, NP_665682.1:p.Trp938fs, XP_016858755.1:p.Trp959fs, NP_001188409.1:p.Trp959fs, NP_001188410.1:p.Trp903fs, NP_001188411.1:p.Trp898fs, XP_047299079.1:p.Trp981fs, XP_047299085.1:p.Trp934fs, XP_047299080.1:p.Trp959fs, XP_047299105.1:p.Trp923fs, XP_047299082.1:p.Trp934fs, XP_047299083.1:p.Trp934fs, XP_047299081.1:p.Trp956fs, XP_047299101.1:p.Trp928fs, XP_047299100.1:p.Trp928fs, XP_047299088.1:p.Trp934fs, XP_047299086.1:p.Trp934fs, XP_047299112.1:p.Trp903fs, XP_047299108.1:p.Trp903fs, XP_047299109.1:p.Trp903fs, XP_047299102.1:p.Trp928fs, XP_047299103.1:p.Trp925fs, XP_047299090.1:p.Trp928fs, XP_047299115.1:p.Trp898fs, XP_047299116.1:p.Trp898fs, XP_047299106.1:p.Trp923fs, XP_047299087.1:p.Trp934fs, XP_047299110.1:p.Trp903fs, XP_047299107.1:p.Trp903fs, XP_047299117.1:p.Trp897fs, XP_047299118.1:p.Trp892fs, XP_047299114.1:p.Trp903fs, XP_047299111.1:p.Trp903fs, XP_047299121.1:p.Trp867fs, XP_047299119.1:p.Trp872fs, XP_047299122.1:p.Trp867fs, XP_047299124.1:p.Trp836fs, XP_047299123.1:p.Trp842fs

              7.

              rs1484844523 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:178383130 (GRCh38)
                2:179247857 (GRCh37)
                Canonical SPDI:
                NC_000002.12:178383129:G:A
                Gene:
                OSBPL6 (Varview)
                Functional Consequence:
                downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000002.12:g.178383130G>A, NC_000002.11:g.179247857G>A, NM_032523.4:c.1728G>A, NM_032523.3:c.1728G>A, XM_017003265.3:c.1869G>A, XM_017003265.2:c.1869G>A, XM_017003265.1:c.1869G>A, XM_017003267.3:c.1803G>A, XM_017003267.2:c.1803G>A, XM_017003267.1:c.1803G>A, XM_011510539.3:c.1710G>A, XM_011510539.2:c.1710G>A, XM_011510539.1:c.1710G>A, XM_017003268.3:c.1695G>A, XM_017003268.2:c.1695G>A, XM_017003268.1:c.1695G>A, XM_017003269.3:c.1695G>A, XM_017003269.2:c.1695G>A, XM_017003269.1:c.1695G>A, XM_017003272.3:c.1602G>A, XM_017003272.2:c.1602G>A, XM_017003272.1:c.1602G>A, XM_017003271.3:c.1620G>A, XM_017003271.2:c.1620G>A, XM_017003271.1:c.1620G>A, XM_017003273.3:c.1542G>A, XM_017003273.2:c.1542G>A, XM_017003273.1:c.1542G>A, XM_017003276.3:c.1527G>A, XM_017003276.2:c.1527G>A, XM_017003276.1:c.1527G>A, XM_017003274.3:c.1527G>A, XM_017003274.2:c.1527G>A, XM_017003274.1:c.1527G>A, XM_017003277.3:c.1434G>A, XM_017003277.2:c.1434G>A, XM_017003277.1:c.1434G>A, NM_145739.3:c.1740G>A, NM_145739.2:c.1740G>A, XM_017003266.2:c.1803G>A, XM_017003266.1:c.1803G>A, NM_001201480.2:c.1803G>A, NM_001201480.1:c.1803G>A, NM_001201481.2:c.1635G>A, NM_001201481.1:c.1635G>A, NM_001201482.2:c.1620G>A, NM_001201482.1:c.1620G>A, XM_047443123.1:c.1869G>A, XM_047443129.1:c.1728G>A, XM_047443124.1:c.1803G>A, XM_047443149.1:c.1695G>A, XM_047443126.1:c.1728G>A, XM_047443127.1:c.1728G>A, XM_047443125.1:c.1794G>A, XM_047443145.1:c.1710G>A, XM_047443144.1:c.1710G>A, XM_047443132.1:c.1728G>A, XM_047443130.1:c.1728G>A, XM_047443156.1:c.1635G>A, XM_047443152.1:c.1635G>A, XM_047443153.1:c.1635G>A, XM_047443146.1:c.1710G>A, XM_047443147.1:c.1701G>A, XM_047443134.1:c.1710G>A, XM_047443159.1:c.1620G>A, XM_047443160.1:c.1620G>A, XM_047443150.1:c.1695G>A, XM_047443131.1:c.1728G>A, XM_047443154.1:c.1635G>A, XM_047443151.1:c.1635G>A, XM_047443161.1:c.1617G>A, XM_047443162.1:c.1602G>A, XM_047443158.1:c.1635G>A, XM_047443155.1:c.1635G>A, XM_047443165.1:c.1527G>A, XM_047443163.1:c.1542G>A, XM_047443166.1:c.1527G>A, XM_047443168.1:c.1434G>A, XM_047443167.1:c.1452G>A

                8.

                rs1484638935 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:178394389 (GRCh38)
                  2:179259116 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:178394388:C:T
                  Gene:
                  OSBPL6 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000002.12:g.178394389C>T, NC_000002.11:g.179259116C>T, NM_032523.4:c.2650C>T, NM_032523.3:c.2650C>T, XM_017003265.3:c.2791C>T, XM_017003265.2:c.2791C>T, XM_017003265.1:c.2791C>T, XM_017003267.3:c.2725C>T, XM_017003267.2:c.2725C>T, XM_017003267.1:c.2725C>T, XM_011510539.3:c.2632C>T, XM_011510539.2:c.2632C>T, XM_011510539.1:c.2632C>T, XM_017003268.3:c.2617C>T, XM_017003268.2:c.2617C>T, XM_017003268.1:c.2617C>T, XM_017003269.3:c.2617C>T, XM_017003269.2:c.2617C>T, XM_017003269.1:c.2617C>T, XM_017003272.3:c.2524C>T, XM_017003272.2:c.2524C>T, XM_017003272.1:c.2524C>T, XM_017003271.3:c.2542C>T, XM_017003271.2:c.2542C>T, XM_017003271.1:c.2542C>T, XM_017003273.3:c.2464C>T, XM_017003273.2:c.2464C>T, XM_017003273.1:c.2464C>T, XM_017003276.3:c.2449C>T, XM_017003276.2:c.2449C>T, XM_017003276.1:c.2449C>T, XM_017003274.3:c.2449C>T, XM_017003274.2:c.2449C>T, XM_017003274.1:c.2449C>T, XM_017003277.3:c.2356C>T, XM_017003277.2:c.2356C>T, XM_017003277.1:c.2356C>T, NM_145739.3:c.2662C>T, NM_145739.2:c.2662C>T, XM_017003266.2:c.2725C>T, XM_017003266.1:c.2725C>T, NM_001201480.2:c.2725C>T, NM_001201480.1:c.2725C>T, NM_001201481.2:c.2557C>T, NM_001201481.1:c.2557C>T, NM_001201482.2:c.2542C>T, NM_001201482.1:c.2542C>T, XM_047443123.1:c.2791C>T, XM_047443129.1:c.2650C>T, XM_047443124.1:c.2725C>T, XM_047443149.1:c.2617C>T, XM_047443126.1:c.2650C>T, XM_047443127.1:c.2650C>T, XM_047443125.1:c.2716C>T, XM_047443145.1:c.2632C>T, XM_047443144.1:c.2632C>T, XM_047443132.1:c.2650C>T, XM_047443130.1:c.2650C>T, XM_047443156.1:c.2557C>T, XM_047443152.1:c.2557C>T, XM_047443153.1:c.2557C>T, XM_047443146.1:c.2632C>T, XM_047443147.1:c.2623C>T, XM_047443134.1:c.2632C>T, XM_047443159.1:c.2542C>T, XM_047443160.1:c.2542C>T, XM_047443150.1:c.2617C>T, XM_047443131.1:c.2650C>T, XM_047443154.1:c.2557C>T, XM_047443151.1:c.2557C>T, XM_047443161.1:c.2539C>T, XM_047443162.1:c.2524C>T, XM_047443158.1:c.2557C>T, XM_047443155.1:c.2557C>T, XM_047443165.1:c.2449C>T, XM_047443163.1:c.2464C>T, XM_047443166.1:c.2449C>T, XM_047443168.1:c.2356C>T, XM_047443167.1:c.2374C>T, NP_115912.1:p.Arg884Ter, XP_016858754.1:p.Arg931Ter, XP_016858756.1:p.Arg909Ter, XP_011508841.1:p.Arg878Ter, XP_016858757.1:p.Arg873Ter, XP_016858758.1:p.Arg873Ter, XP_016858761.1:p.Arg842Ter, XP_016858760.1:p.Arg848Ter, XP_016858762.1:p.Arg822Ter, XP_016858765.1:p.Arg817Ter, XP_016858763.1:p.Arg817Ter, XP_016858766.1:p.Arg786Ter, NP_665682.1:p.Arg888Ter, XP_016858755.1:p.Arg909Ter, NP_001188409.1:p.Arg909Ter, NP_001188410.1:p.Arg853Ter, NP_001188411.1:p.Arg848Ter, XP_047299079.1:p.Arg931Ter, XP_047299085.1:p.Arg884Ter, XP_047299080.1:p.Arg909Ter, XP_047299105.1:p.Arg873Ter, XP_047299082.1:p.Arg884Ter, XP_047299083.1:p.Arg884Ter, XP_047299081.1:p.Arg906Ter, XP_047299101.1:p.Arg878Ter, XP_047299100.1:p.Arg878Ter, XP_047299088.1:p.Arg884Ter, XP_047299086.1:p.Arg884Ter, XP_047299112.1:p.Arg853Ter, XP_047299108.1:p.Arg853Ter, XP_047299109.1:p.Arg853Ter, XP_047299102.1:p.Arg878Ter, XP_047299103.1:p.Arg875Ter, XP_047299090.1:p.Arg878Ter, XP_047299115.1:p.Arg848Ter, XP_047299116.1:p.Arg848Ter, XP_047299106.1:p.Arg873Ter, XP_047299087.1:p.Arg884Ter, XP_047299110.1:p.Arg853Ter, XP_047299107.1:p.Arg853Ter, XP_047299117.1:p.Arg847Ter, XP_047299118.1:p.Arg842Ter, XP_047299114.1:p.Arg853Ter, XP_047299111.1:p.Arg853Ter, XP_047299121.1:p.Arg817Ter, XP_047299119.1:p.Arg822Ter, XP_047299122.1:p.Arg817Ter, XP_047299124.1:p.Arg786Ter, XP_047299123.1:p.Arg792Ter

                  9.

                  rs1483427088 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:178373991 (GRCh38)
                    2:179238718 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:178373990:A:G
                    Gene:
                    OSBPL6 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.0003/1 (KOREAN)
                    G=0.0005/1 (Korea1K)
                    HGVS:
                    NC_000002.12:g.178373991A>G, NC_000002.11:g.179238718A>G, NM_032523.4:c.1497A>G, NM_032523.3:c.1497A>G, XM_017003265.3:c.1638A>G, XM_017003265.2:c.1638A>G, XM_017003265.1:c.1638A>G, XM_017003267.3:c.1572A>G, XM_017003267.2:c.1572A>G, XM_017003267.1:c.1572A>G, XM_011510539.3:c.1479A>G, XM_011510539.2:c.1479A>G, XM_011510539.1:c.1479A>G, XM_017003268.3:c.1464A>G, XM_017003268.2:c.1464A>G, XM_017003268.1:c.1464A>G, XM_017003269.3:c.1464A>G, XM_017003269.2:c.1464A>G, XM_017003269.1:c.1464A>G, XM_017003272.3:c.1371A>G, XM_017003272.2:c.1371A>G, XM_017003272.1:c.1371A>G, XM_017003271.3:c.1389A>G, XM_017003271.2:c.1389A>G, XM_017003271.1:c.1389A>G, XM_017003273.3:c.1311A>G, XM_017003273.2:c.1311A>G, XM_017003273.1:c.1311A>G, XM_017003276.3:c.1296A>G, XM_017003276.2:c.1296A>G, XM_017003276.1:c.1296A>G, XM_017003274.3:c.1296A>G, XM_017003274.2:c.1296A>G, XM_017003274.1:c.1296A>G, XM_017003277.3:c.1203A>G, XM_017003277.2:c.1203A>G, XM_017003277.1:c.1203A>G, NM_145739.3:c.1509A>G, NM_145739.2:c.1509A>G, XM_017003266.2:c.1572A>G, XM_017003266.1:c.1572A>G, NM_001201480.2:c.1572A>G, NM_001201480.1:c.1572A>G, NM_001201481.2:c.1404A>G, NM_001201481.1:c.1404A>G, NM_001201482.2:c.1389A>G, NM_001201482.1:c.1389A>G, XM_047443123.1:c.1638A>G, XM_047443129.1:c.1497A>G, XM_047443124.1:c.1572A>G, XM_047443149.1:c.1464A>G, XM_047443126.1:c.1497A>G, XM_047443127.1:c.1497A>G, XM_047443125.1:c.1563A>G, XM_047443145.1:c.1479A>G, XM_047443144.1:c.1479A>G, XM_047443132.1:c.1497A>G, XM_047443130.1:c.1497A>G, XM_047443156.1:c.1404A>G, XM_047443152.1:c.1404A>G, XM_047443153.1:c.1404A>G, XM_047443146.1:c.1479A>G, XM_047443147.1:c.1470A>G, XM_047443134.1:c.1479A>G, XM_047443159.1:c.1389A>G, XM_047443160.1:c.1389A>G, XM_047443150.1:c.1464A>G, XM_047443131.1:c.1497A>G, XM_047443154.1:c.1404A>G, XM_047443151.1:c.1404A>G, XM_047443161.1:c.1386A>G, XM_047443162.1:c.1371A>G, XM_047443158.1:c.1404A>G, XM_047443155.1:c.1404A>G, XM_047443165.1:c.1296A>G, XM_047443163.1:c.1311A>G, XM_047443166.1:c.1296A>G, XM_047443168.1:c.1203A>G, XM_047443167.1:c.1221A>G, XM_047443169.1:c.1296A>G

                    10.

                    rs1481226098 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      2:178332923 (GRCh38)
                      2:179197650 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:178332922:G:A,NC_000002.12:178332922:G:T
                      Gene:
                      OSBPL6 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000002.12:g.178332923G>A, NC_000002.12:g.178332923G>T, NC_000002.11:g.179197650G>A, NC_000002.11:g.179197650G>T, NM_032523.4:c.539G>A, NM_032523.4:c.539G>T, NM_032523.3:c.539G>A, NM_032523.3:c.539G>T, XM_017003265.3:c.605G>A, XM_017003265.3:c.605G>T, XM_017003265.2:c.605G>A, XM_017003265.2:c.605G>T, XM_017003265.1:c.605G>A, XM_017003265.1:c.605G>T, XM_017003267.3:c.539G>A, XM_017003267.3:c.539G>T, XM_017003267.2:c.539G>A, XM_017003267.2:c.539G>T, XM_017003267.1:c.539G>A, XM_017003267.1:c.539G>T, XM_011510539.3:c.446G>A, XM_011510539.3:c.446G>T, XM_011510539.2:c.446G>A, XM_011510539.2:c.446G>T, XM_011510539.1:c.446G>A, XM_011510539.1:c.446G>T, XM_017003268.3:c.539G>A, XM_017003268.3:c.539G>T, XM_017003268.2:c.539G>A, XM_017003268.2:c.539G>T, XM_017003268.1:c.539G>A, XM_017003268.1:c.539G>T, XM_017003269.3:c.539G>A, XM_017003269.3:c.539G>T, XM_017003269.2:c.539G>A, XM_017003269.2:c.539G>T, XM_017003269.1:c.539G>A, XM_017003269.1:c.539G>T, XM_017003272.3:c.446G>A, XM_017003272.3:c.446G>T, XM_017003272.2:c.446G>A, XM_017003272.2:c.446G>T, XM_017003272.1:c.446G>A, XM_017003272.1:c.446G>T, XM_017003271.3:c.539G>A, XM_017003271.3:c.539G>T, XM_017003271.2:c.539G>A, XM_017003271.2:c.539G>T, XM_017003271.1:c.539G>A, XM_017003271.1:c.539G>T, XM_017003273.3:c.446G>A, XM_017003273.3:c.446G>T, XM_017003273.2:c.446G>A, XM_017003273.2:c.446G>T, XM_017003273.1:c.446G>A, XM_017003273.1:c.446G>T, XM_017003276.3:c.446G>A, XM_017003276.3:c.446G>T, XM_017003276.2:c.446G>A, XM_017003276.2:c.446G>T, XM_017003276.1:c.446G>A, XM_017003276.1:c.446G>T, XM_017003274.3:c.539G>A, XM_017003274.3:c.539G>T, XM_017003274.2:c.539G>A, XM_017003274.2:c.539G>T, XM_017003274.1:c.539G>A, XM_017003274.1:c.539G>T, XM_017003277.3:c.446G>A, XM_017003277.3:c.446G>T, XM_017003277.2:c.446G>A, XM_017003277.2:c.446G>T, XM_017003277.1:c.446G>A, XM_017003277.1:c.446G>T, NM_145739.3:c.476G>A, NM_145739.3:c.476G>T, NM_145739.2:c.476G>A, NM_145739.2:c.476G>T, XM_017003266.2:c.539G>A, XM_017003266.2:c.539G>T, XM_017003266.1:c.539G>A, XM_017003266.1:c.539G>T, NM_001201480.2:c.539G>A, NM_001201480.2:c.539G>T, NM_001201480.1:c.539G>A, NM_001201480.1:c.539G>T, NM_001201481.2:c.539G>A, NM_001201481.2:c.539G>T, NM_001201481.1:c.539G>A, NM_001201481.1:c.539G>T, NM_001201482.2:c.539G>A, NM_001201482.2:c.539G>T, NM_001201482.1:c.539G>A, NM_001201482.1:c.539G>T, XM_047443123.1:c.605G>A, XM_047443123.1:c.605G>T, XM_047443129.1:c.539G>A, XM_047443129.1:c.539G>T, XM_047443124.1:c.539G>A, XM_047443124.1:c.539G>T, XM_047443149.1:c.539G>A, XM_047443149.1:c.539G>T, XM_047443126.1:c.539G>A, XM_047443126.1:c.539G>T, XM_047443127.1:c.539G>A, XM_047443127.1:c.539G>T, XM_047443125.1:c.605G>A, XM_047443125.1:c.605G>T, XM_047443145.1:c.446G>A, XM_047443145.1:c.446G>T, XM_047443144.1:c.539G>A, XM_047443144.1:c.539G>T, XM_047443132.1:c.539G>A, XM_047443132.1:c.539G>T, XM_047443130.1:c.539G>A, XM_047443130.1:c.539G>T, XM_047443156.1:c.446G>A, XM_047443156.1:c.446G>T, XM_047443152.1:c.539G>A, XM_047443152.1:c.539G>T, XM_047443153.1:c.539G>A, XM_047443153.1:c.539G>T, XM_047443146.1:c.446G>A, XM_047443146.1:c.446G>T, XM_047443147.1:c.605G>A, XM_047443147.1:c.605G>T, XM_047443134.1:c.539G>A, XM_047443134.1:c.539G>T, XM_047443159.1:c.539G>A, XM_047443159.1:c.539G>T, XM_047443160.1:c.539G>A, XM_047443160.1:c.539G>T, XM_047443150.1:c.539G>A, XM_047443150.1:c.539G>T, XM_047443131.1:c.539G>A, XM_047443131.1:c.539G>T, XM_047443154.1:c.539G>A, XM_047443154.1:c.539G>T, XM_047443151.1:c.446G>A, XM_047443151.1:c.446G>T, XM_047443161.1:c.446G>A, XM_047443161.1:c.446G>T, XM_047443162.1:c.539G>A, XM_047443162.1:c.539G>T, XM_047443158.1:c.446G>A, XM_047443158.1:c.446G>T, XM_047443155.1:c.539G>A, XM_047443155.1:c.539G>T, XM_047443165.1:c.539G>A, XM_047443165.1:c.539G>T, XM_047443163.1:c.446G>A, XM_047443163.1:c.446G>T, XM_047443166.1:c.539G>A, XM_047443166.1:c.539G>T, XM_047443168.1:c.446G>A, XM_047443168.1:c.446G>T, XM_047443167.1:c.263G>A, XM_047443167.1:c.263G>T, XM_047443169.1:c.539G>A, XM_047443169.1:c.539G>T, NP_115912.1:p.Arg180Gln, NP_115912.1:p.Arg180Leu, XP_016858754.1:p.Arg202Gln, XP_016858754.1:p.Arg202Leu, XP_016858756.1:p.Arg180Gln, XP_016858756.1:p.Arg180Leu, XP_011508841.1:p.Arg149Gln, XP_011508841.1:p.Arg149Leu, XP_016858757.1:p.Arg180Gln, XP_016858757.1:p.Arg180Leu, XP_016858758.1:p.Arg180Gln, XP_016858758.1:p.Arg180Leu, XP_016858761.1:p.Arg149Gln, XP_016858761.1:p.Arg149Leu, XP_016858760.1:p.Arg180Gln, XP_016858760.1:p.Arg180Leu, XP_016858762.1:p.Arg149Gln, XP_016858762.1:p.Arg149Leu, XP_016858765.1:p.Arg149Gln, XP_016858765.1:p.Arg149Leu, XP_016858763.1:p.Arg180Gln, XP_016858763.1:p.Arg180Leu, XP_016858766.1:p.Arg149Gln, XP_016858766.1:p.Arg149Leu, NP_665682.1:p.Arg159Gln, NP_665682.1:p.Arg159Leu, XP_016858755.1:p.Arg180Gln, XP_016858755.1:p.Arg180Leu, NP_001188409.1:p.Arg180Gln, NP_001188409.1:p.Arg180Leu, NP_001188410.1:p.Arg180Gln, NP_001188410.1:p.Arg180Leu, NP_001188411.1:p.Arg180Gln, NP_001188411.1:p.Arg180Leu, XP_047299079.1:p.Arg202Gln, XP_047299079.1:p.Arg202Leu, XP_047299085.1:p.Arg180Gln, XP_047299085.1:p.Arg180Leu, XP_047299080.1:p.Arg180Gln, XP_047299080.1:p.Arg180Leu, XP_047299105.1:p.Arg180Gln, XP_047299105.1:p.Arg180Leu, XP_047299082.1:p.Arg180Gln, XP_047299082.1:p.Arg180Leu, XP_047299083.1:p.Arg180Gln, XP_047299083.1:p.Arg180Leu, XP_047299081.1:p.Arg202Gln, XP_047299081.1:p.Arg202Leu, XP_047299101.1:p.Arg149Gln, XP_047299101.1:p.Arg149Leu, XP_047299100.1:p.Arg180Gln, XP_047299100.1:p.Arg180Leu, XP_047299088.1:p.Arg180Gln, XP_047299088.1:p.Arg180Leu, XP_047299086.1:p.Arg180Gln, XP_047299086.1:p.Arg180Leu, XP_047299112.1:p.Arg149Gln, XP_047299112.1:p.Arg149Leu, XP_047299108.1:p.Arg180Gln, XP_047299108.1:p.Arg180Leu, XP_047299109.1:p.Arg180Gln, XP_047299109.1:p.Arg180Leu, XP_047299102.1:p.Arg149Gln, XP_047299102.1:p.Arg149Leu, XP_047299103.1:p.Arg202Gln, XP_047299103.1:p.Arg202Leu, XP_047299090.1:p.Arg180Gln, XP_047299090.1:p.Arg180Leu, XP_047299115.1:p.Arg180Gln, XP_047299115.1:p.Arg180Leu, XP_047299116.1:p.Arg180Gln, XP_047299116.1:p.Arg180Leu, XP_047299106.1:p.Arg180Gln, XP_047299106.1:p.Arg180Leu, XP_047299087.1:p.Arg180Gln, XP_047299087.1:p.Arg180Leu, XP_047299110.1:p.Arg180Gln, XP_047299110.1:p.Arg180Leu, XP_047299107.1:p.Arg149Gln, XP_047299107.1:p.Arg149Leu, XP_047299117.1:p.Arg149Gln, XP_047299117.1:p.Arg149Leu, XP_047299118.1:p.Arg180Gln, XP_047299118.1:p.Arg180Leu, XP_047299114.1:p.Arg149Gln, XP_047299114.1:p.Arg149Leu, XP_047299111.1:p.Arg180Gln, XP_047299111.1:p.Arg180Leu, XP_047299121.1:p.Arg180Gln, XP_047299121.1:p.Arg180Leu, XP_047299119.1:p.Arg149Gln, XP_047299119.1:p.Arg149Leu, XP_047299122.1:p.Arg180Gln, XP_047299122.1:p.Arg180Leu, XP_047299124.1:p.Arg149Gln, XP_047299124.1:p.Arg149Leu, XP_047299123.1:p.Arg88Gln, XP_047299123.1:p.Arg88Leu, XP_047299125.1:p.Arg180Gln, XP_047299125.1:p.Arg180Leu

                      11.

                      rs1480389971 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:178361786 (GRCh38)
                        2:179226513 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:178361785:A:G
                        Gene:
                        OSBPL6 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.178361786A>G, NC_000002.11:g.179226513A>G, NM_032523.4:c.1258A>G, NM_032523.3:c.1258A>G, XM_017003265.3:c.1399A>G, XM_017003265.2:c.1399A>G, XM_017003265.1:c.1399A>G, XM_017003267.3:c.1333A>G, XM_017003267.2:c.1333A>G, XM_017003267.1:c.1333A>G, XM_011510539.3:c.1240A>G, XM_011510539.2:c.1240A>G, XM_011510539.1:c.1240A>G, XM_017003268.3:c.1333A>G, XM_017003268.2:c.1333A>G, XM_017003268.1:c.1333A>G, XM_017003269.3:c.1333A>G, XM_017003269.2:c.1333A>G, XM_017003269.1:c.1333A>G, XM_017003272.3:c.1240A>G, XM_017003272.2:c.1240A>G, XM_017003272.1:c.1240A>G, XM_017003271.3:c.1258A>G, XM_017003271.2:c.1258A>G, XM_017003271.1:c.1258A>G, XM_017003273.3:c.1072A>G, XM_017003273.2:c.1072A>G, XM_017003273.1:c.1072A>G, XM_017003276.3:c.1165A>G, XM_017003276.2:c.1165A>G, XM_017003276.1:c.1165A>G, XM_017003274.3:c.1165A>G, XM_017003274.2:c.1165A>G, XM_017003274.1:c.1165A>G, XM_017003277.3:c.1072A>G, XM_017003277.2:c.1072A>G, XM_017003277.1:c.1072A>G, NM_145739.3:c.1270A>G, NM_145739.2:c.1270A>G, XM_017003266.2:c.1333A>G, XM_017003266.1:c.1333A>G, NM_001201480.2:c.1333A>G, NM_001201480.1:c.1333A>G, NM_001201481.2:c.1165A>G, NM_001201481.1:c.1165A>G, NM_001201482.2:c.1258A>G, NM_001201482.1:c.1258A>G, XM_047443123.1:c.1399A>G, XM_047443129.1:c.1258A>G, XM_047443124.1:c.1333A>G, XM_047443149.1:c.1333A>G, XM_047443126.1:c.1258A>G, XM_047443127.1:c.1258A>G, XM_047443125.1:c.1324A>G, XM_047443145.1:c.1240A>G, XM_047443144.1:c.1240A>G, XM_047443132.1:c.1258A>G, XM_047443130.1:c.1258A>G, XM_047443156.1:c.1165A>G, XM_047443152.1:c.1165A>G, XM_047443153.1:c.1165A>G, XM_047443146.1:c.1240A>G, XM_047443147.1:c.1231A>G, XM_047443134.1:c.1240A>G, XM_047443159.1:c.1258A>G, XM_047443160.1:c.1258A>G, XM_047443150.1:c.1333A>G, XM_047443131.1:c.1258A>G, XM_047443154.1:c.1165A>G, XM_047443151.1:c.1165A>G, XM_047443161.1:c.1147A>G, XM_047443162.1:c.1240A>G, XM_047443158.1:c.1165A>G, XM_047443155.1:c.1165A>G, XM_047443165.1:c.1165A>G, XM_047443163.1:c.1072A>G, XM_047443166.1:c.1165A>G, XM_047443168.1:c.1072A>G, XM_047443167.1:c.982A>G, XM_047443169.1:c.1165A>G, NP_115912.1:p.Met420Val, XP_016858754.1:p.Met467Val, XP_016858756.1:p.Met445Val, XP_011508841.1:p.Met414Val, XP_016858757.1:p.Met445Val, XP_016858758.1:p.Met445Val, XP_016858761.1:p.Met414Val, XP_016858760.1:p.Met420Val, XP_016858762.1:p.Met358Val, XP_016858765.1:p.Met389Val, XP_016858763.1:p.Met389Val, XP_016858766.1:p.Met358Val, NP_665682.1:p.Met424Val, XP_016858755.1:p.Met445Val, NP_001188409.1:p.Met445Val, NP_001188410.1:p.Met389Val, NP_001188411.1:p.Met420Val, XP_047299079.1:p.Met467Val, XP_047299085.1:p.Met420Val, XP_047299080.1:p.Met445Val, XP_047299105.1:p.Met445Val, XP_047299082.1:p.Met420Val, XP_047299083.1:p.Met420Val, XP_047299081.1:p.Met442Val, XP_047299101.1:p.Met414Val, XP_047299100.1:p.Met414Val, XP_047299088.1:p.Met420Val, XP_047299086.1:p.Met420Val, XP_047299112.1:p.Met389Val, XP_047299108.1:p.Met389Val, XP_047299109.1:p.Met389Val, XP_047299102.1:p.Met414Val, XP_047299103.1:p.Met411Val, XP_047299090.1:p.Met414Val, XP_047299115.1:p.Met420Val, XP_047299116.1:p.Met420Val, XP_047299106.1:p.Met445Val, XP_047299087.1:p.Met420Val, XP_047299110.1:p.Met389Val, XP_047299107.1:p.Met389Val, XP_047299117.1:p.Met383Val, XP_047299118.1:p.Met414Val, XP_047299114.1:p.Met389Val, XP_047299111.1:p.Met389Val, XP_047299121.1:p.Met389Val, XP_047299119.1:p.Met358Val, XP_047299122.1:p.Met389Val, XP_047299124.1:p.Met358Val, XP_047299123.1:p.Met328Val, XP_047299125.1:p.Met389Val

                        12.

                        rs1480091812 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:178349332 (GRCh38)
                          2:179214059 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:178349331:G:C
                          Gene:
                          OSBPL6 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000002.12:g.178349332G>C, NC_000002.11:g.179214059G>C, NM_032523.4:c.1096G>C, NM_032523.3:c.1096G>C, XM_017003265.3:c.1237G>C, XM_017003265.2:c.1237G>C, XM_017003265.1:c.1237G>C, XM_017003267.3:c.1171G>C, XM_017003267.2:c.1171G>C, XM_017003267.1:c.1171G>C, XM_011510539.3:c.1078G>C, XM_011510539.2:c.1078G>C, XM_011510539.1:c.1078G>C, XM_017003268.3:c.1171G>C, XM_017003268.2:c.1171G>C, XM_017003268.1:c.1171G>C, XM_017003269.3:c.1171G>C, XM_017003269.2:c.1171G>C, XM_017003269.1:c.1171G>C, XM_017003272.3:c.1078G>C, XM_017003272.2:c.1078G>C, XM_017003272.1:c.1078G>C, XM_017003271.3:c.1096G>C, XM_017003271.2:c.1096G>C, XM_017003271.1:c.1096G>C, XM_017003273.3:c.910G>C, XM_017003273.2:c.910G>C, XM_017003273.1:c.910G>C, XM_017003276.3:c.1003G>C, XM_017003276.2:c.1003G>C, XM_017003276.1:c.1003G>C, XM_017003274.3:c.1003G>C, XM_017003274.2:c.1003G>C, XM_017003274.1:c.1003G>C, XM_017003277.3:c.910G>C, XM_017003277.2:c.910G>C, XM_017003277.1:c.910G>C, NM_145739.3:c.1108G>C, NM_145739.2:c.1108G>C, XM_017003266.2:c.1171G>C, XM_017003266.1:c.1171G>C, NM_001201480.2:c.1171G>C, NM_001201480.1:c.1171G>C, NM_001201481.2:c.1003G>C, NM_001201481.1:c.1003G>C, NM_001201482.2:c.1096G>C, NM_001201482.1:c.1096G>C, XM_047443123.1:c.1237G>C, XM_047443129.1:c.1096G>C, XM_047443124.1:c.1171G>C, XM_047443149.1:c.1171G>C, XM_047443126.1:c.1096G>C, XM_047443127.1:c.1096G>C, XM_047443125.1:c.1162G>C, XM_047443145.1:c.1078G>C, XM_047443144.1:c.1078G>C, XM_047443132.1:c.1096G>C, XM_047443130.1:c.1096G>C, XM_047443156.1:c.1003G>C, XM_047443152.1:c.1003G>C, XM_047443153.1:c.1003G>C, XM_047443146.1:c.1078G>C, XM_047443147.1:c.1069G>C, XM_047443134.1:c.1078G>C, XM_047443159.1:c.1096G>C, XM_047443160.1:c.1096G>C, XM_047443150.1:c.1171G>C, XM_047443131.1:c.1096G>C, XM_047443154.1:c.1003G>C, XM_047443151.1:c.1003G>C, XM_047443161.1:c.985G>C, XM_047443162.1:c.1078G>C, XM_047443158.1:c.1003G>C, XM_047443155.1:c.1003G>C, XM_047443165.1:c.1003G>C, XM_047443163.1:c.910G>C, XM_047443166.1:c.1003G>C, XM_047443168.1:c.910G>C, XM_047443167.1:c.820G>C, XM_047443169.1:c.1003G>C, NP_115912.1:p.Glu366Gln, XP_016858754.1:p.Glu413Gln, XP_016858756.1:p.Glu391Gln, XP_011508841.1:p.Glu360Gln, XP_016858757.1:p.Glu391Gln, XP_016858758.1:p.Glu391Gln, XP_016858761.1:p.Glu360Gln, XP_016858760.1:p.Glu366Gln, XP_016858762.1:p.Glu304Gln, XP_016858765.1:p.Glu335Gln, XP_016858763.1:p.Glu335Gln, XP_016858766.1:p.Glu304Gln, NP_665682.1:p.Glu370Gln, XP_016858755.1:p.Glu391Gln, NP_001188409.1:p.Glu391Gln, NP_001188410.1:p.Glu335Gln, NP_001188411.1:p.Glu366Gln, XP_047299079.1:p.Glu413Gln, XP_047299085.1:p.Glu366Gln, XP_047299080.1:p.Glu391Gln, XP_047299105.1:p.Glu391Gln, XP_047299082.1:p.Glu366Gln, XP_047299083.1:p.Glu366Gln, XP_047299081.1:p.Glu388Gln, XP_047299101.1:p.Glu360Gln, XP_047299100.1:p.Glu360Gln, XP_047299088.1:p.Glu366Gln, XP_047299086.1:p.Glu366Gln, XP_047299112.1:p.Glu335Gln, XP_047299108.1:p.Glu335Gln, XP_047299109.1:p.Glu335Gln, XP_047299102.1:p.Glu360Gln, XP_047299103.1:p.Glu357Gln, XP_047299090.1:p.Glu360Gln, XP_047299115.1:p.Glu366Gln, XP_047299116.1:p.Glu366Gln, XP_047299106.1:p.Glu391Gln, XP_047299087.1:p.Glu366Gln, XP_047299110.1:p.Glu335Gln, XP_047299107.1:p.Glu335Gln, XP_047299117.1:p.Glu329Gln, XP_047299118.1:p.Glu360Gln, XP_047299114.1:p.Glu335Gln, XP_047299111.1:p.Glu335Gln, XP_047299121.1:p.Glu335Gln, XP_047299119.1:p.Glu304Gln, XP_047299122.1:p.Glu335Gln, XP_047299124.1:p.Glu304Gln, XP_047299123.1:p.Glu274Gln, XP_047299125.1:p.Glu335Gln

                          13.

                          rs1478648727 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:178361705 (GRCh38)
                            2:179226432 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:178361704:T:C
                            Gene:
                            OSBPL6 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.178361705T>C, NC_000002.11:g.179226432T>C, NM_032523.4:c.1177T>C, NM_032523.3:c.1177T>C, XM_017003265.3:c.1318T>C, XM_017003265.2:c.1318T>C, XM_017003265.1:c.1318T>C, XM_017003267.3:c.1252T>C, XM_017003267.2:c.1252T>C, XM_017003267.1:c.1252T>C, XM_011510539.3:c.1159T>C, XM_011510539.2:c.1159T>C, XM_011510539.1:c.1159T>C, XM_017003268.3:c.1252T>C, XM_017003268.2:c.1252T>C, XM_017003268.1:c.1252T>C, XM_017003269.3:c.1252T>C, XM_017003269.2:c.1252T>C, XM_017003269.1:c.1252T>C, XM_017003272.3:c.1159T>C, XM_017003272.2:c.1159T>C, XM_017003272.1:c.1159T>C, XM_017003271.3:c.1177T>C, XM_017003271.2:c.1177T>C, XM_017003271.1:c.1177T>C, XM_017003273.3:c.991T>C, XM_017003273.2:c.991T>C, XM_017003273.1:c.991T>C, XM_017003276.3:c.1084T>C, XM_017003276.2:c.1084T>C, XM_017003276.1:c.1084T>C, XM_017003274.3:c.1084T>C, XM_017003274.2:c.1084T>C, XM_017003274.1:c.1084T>C, XM_017003277.3:c.991T>C, XM_017003277.2:c.991T>C, XM_017003277.1:c.991T>C, NM_145739.3:c.1189T>C, NM_145739.2:c.1189T>C, XM_017003266.2:c.1252T>C, XM_017003266.1:c.1252T>C, NM_001201480.2:c.1252T>C, NM_001201480.1:c.1252T>C, NM_001201481.2:c.1084T>C, NM_001201481.1:c.1084T>C, NM_001201482.2:c.1177T>C, NM_001201482.1:c.1177T>C, XM_047443123.1:c.1318T>C, XM_047443129.1:c.1177T>C, XM_047443124.1:c.1252T>C, XM_047443149.1:c.1252T>C, XM_047443126.1:c.1177T>C, XM_047443127.1:c.1177T>C, XM_047443125.1:c.1243T>C, XM_047443145.1:c.1159T>C, XM_047443144.1:c.1159T>C, XM_047443132.1:c.1177T>C, XM_047443130.1:c.1177T>C, XM_047443156.1:c.1084T>C, XM_047443152.1:c.1084T>C, XM_047443153.1:c.1084T>C, XM_047443146.1:c.1159T>C, XM_047443147.1:c.1150T>C, XM_047443134.1:c.1159T>C, XM_047443159.1:c.1177T>C, XM_047443160.1:c.1177T>C, XM_047443150.1:c.1252T>C, XM_047443131.1:c.1177T>C, XM_047443154.1:c.1084T>C, XM_047443151.1:c.1084T>C, XM_047443161.1:c.1066T>C, XM_047443162.1:c.1159T>C, XM_047443158.1:c.1084T>C, XM_047443155.1:c.1084T>C, XM_047443165.1:c.1084T>C, XM_047443163.1:c.991T>C, XM_047443166.1:c.1084T>C, XM_047443168.1:c.991T>C, XM_047443167.1:c.901T>C, XM_047443169.1:c.1084T>C, NP_115912.1:p.Phe393Leu, XP_016858754.1:p.Phe440Leu, XP_016858756.1:p.Phe418Leu, XP_011508841.1:p.Phe387Leu, XP_016858757.1:p.Phe418Leu, XP_016858758.1:p.Phe418Leu, XP_016858761.1:p.Phe387Leu, XP_016858760.1:p.Phe393Leu, XP_016858762.1:p.Phe331Leu, XP_016858765.1:p.Phe362Leu, XP_016858763.1:p.Phe362Leu, XP_016858766.1:p.Phe331Leu, NP_665682.1:p.Phe397Leu, XP_016858755.1:p.Phe418Leu, NP_001188409.1:p.Phe418Leu, NP_001188410.1:p.Phe362Leu, NP_001188411.1:p.Phe393Leu, XP_047299079.1:p.Phe440Leu, XP_047299085.1:p.Phe393Leu, XP_047299080.1:p.Phe418Leu, XP_047299105.1:p.Phe418Leu, XP_047299082.1:p.Phe393Leu, XP_047299083.1:p.Phe393Leu, XP_047299081.1:p.Phe415Leu, XP_047299101.1:p.Phe387Leu, XP_047299100.1:p.Phe387Leu, XP_047299088.1:p.Phe393Leu, XP_047299086.1:p.Phe393Leu, XP_047299112.1:p.Phe362Leu, XP_047299108.1:p.Phe362Leu, XP_047299109.1:p.Phe362Leu, XP_047299102.1:p.Phe387Leu, XP_047299103.1:p.Phe384Leu, XP_047299090.1:p.Phe387Leu, XP_047299115.1:p.Phe393Leu, XP_047299116.1:p.Phe393Leu, XP_047299106.1:p.Phe418Leu, XP_047299087.1:p.Phe393Leu, XP_047299110.1:p.Phe362Leu, XP_047299107.1:p.Phe362Leu, XP_047299117.1:p.Phe356Leu, XP_047299118.1:p.Phe387Leu, XP_047299114.1:p.Phe362Leu, XP_047299111.1:p.Phe362Leu, XP_047299121.1:p.Phe362Leu, XP_047299119.1:p.Phe331Leu, XP_047299122.1:p.Phe362Leu, XP_047299124.1:p.Phe331Leu, XP_047299123.1:p.Phe301Leu, XP_047299125.1:p.Phe362Leu

                            14.

                            rs1477166266 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:178332647 (GRCh38)
                              2:179197374 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:178332646:A:G
                              Gene:
                              OSBPL6 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.178332647A>G, NC_000002.11:g.179197374A>G, NM_032523.4:c.379A>G, NM_032523.3:c.379A>G, XM_017003265.3:c.445A>G, XM_017003265.2:c.445A>G, XM_017003265.1:c.445A>G, XM_017003267.3:c.379A>G, XM_017003267.2:c.379A>G, XM_017003267.1:c.379A>G, XM_011510539.3:c.286A>G, XM_011510539.2:c.286A>G, XM_011510539.1:c.286A>G, XM_017003268.3:c.379A>G, XM_017003268.2:c.379A>G, XM_017003268.1:c.379A>G, XM_017003269.3:c.379A>G, XM_017003269.2:c.379A>G, XM_017003269.1:c.379A>G, XM_017003272.3:c.286A>G, XM_017003272.2:c.286A>G, XM_017003272.1:c.286A>G, XM_017003271.3:c.379A>G, XM_017003271.2:c.379A>G, XM_017003271.1:c.379A>G, XM_017003273.3:c.286A>G, XM_017003273.2:c.286A>G, XM_017003273.1:c.286A>G, XM_017003276.3:c.286A>G, XM_017003276.2:c.286A>G, XM_017003276.1:c.286A>G, XM_017003274.3:c.379A>G, XM_017003274.2:c.379A>G, XM_017003274.1:c.379A>G, XM_017003277.3:c.286A>G, XM_017003277.2:c.286A>G, XM_017003277.1:c.286A>G, NM_145739.3:c.316A>G, NM_145739.2:c.316A>G, XM_017003266.2:c.379A>G, XM_017003266.1:c.379A>G, NM_001201480.2:c.379A>G, NM_001201480.1:c.379A>G, NM_001201481.2:c.379A>G, NM_001201481.1:c.379A>G, NM_001201482.2:c.379A>G, NM_001201482.1:c.379A>G, XM_047443123.1:c.445A>G, XM_047443129.1:c.379A>G, XM_047443124.1:c.379A>G, XM_047443149.1:c.379A>G, XM_047443126.1:c.379A>G, XM_047443127.1:c.379A>G, XM_047443125.1:c.445A>G, XM_047443145.1:c.286A>G, XM_047443144.1:c.379A>G, XM_047443132.1:c.379A>G, XM_047443130.1:c.379A>G, XM_047443156.1:c.286A>G, XM_047443152.1:c.379A>G, XM_047443153.1:c.379A>G, XM_047443146.1:c.286A>G, XM_047443147.1:c.445A>G, XM_047443134.1:c.379A>G, XM_047443159.1:c.379A>G, XM_047443160.1:c.379A>G, XM_047443150.1:c.379A>G, XM_047443131.1:c.379A>G, XM_047443154.1:c.379A>G, XM_047443151.1:c.286A>G, XM_047443161.1:c.286A>G, XM_047443162.1:c.379A>G, XM_047443158.1:c.286A>G, XM_047443155.1:c.379A>G, XM_047443165.1:c.379A>G, XM_047443163.1:c.286A>G, XM_047443166.1:c.379A>G, XM_047443168.1:c.286A>G, XM_047443167.1:c.103A>G, XM_047443169.1:c.379A>G, NP_115912.1:p.Lys127Glu, XP_016858754.1:p.Lys149Glu, XP_016858756.1:p.Lys127Glu, XP_011508841.1:p.Lys96Glu, XP_016858757.1:p.Lys127Glu, XP_016858758.1:p.Lys127Glu, XP_016858761.1:p.Lys96Glu, XP_016858760.1:p.Lys127Glu, XP_016858762.1:p.Lys96Glu, XP_016858765.1:p.Lys96Glu, XP_016858763.1:p.Lys127Glu, XP_016858766.1:p.Lys96Glu, NP_665682.1:p.Lys106Glu, XP_016858755.1:p.Lys127Glu, NP_001188409.1:p.Lys127Glu, NP_001188410.1:p.Lys127Glu, NP_001188411.1:p.Lys127Glu, XP_047299079.1:p.Lys149Glu, XP_047299085.1:p.Lys127Glu, XP_047299080.1:p.Lys127Glu, XP_047299105.1:p.Lys127Glu, XP_047299082.1:p.Lys127Glu, XP_047299083.1:p.Lys127Glu, XP_047299081.1:p.Lys149Glu, XP_047299101.1:p.Lys96Glu, XP_047299100.1:p.Lys127Glu, XP_047299088.1:p.Lys127Glu, XP_047299086.1:p.Lys127Glu, XP_047299112.1:p.Lys96Glu, XP_047299108.1:p.Lys127Glu, XP_047299109.1:p.Lys127Glu, XP_047299102.1:p.Lys96Glu, XP_047299103.1:p.Lys149Glu, XP_047299090.1:p.Lys127Glu, XP_047299115.1:p.Lys127Glu, XP_047299116.1:p.Lys127Glu, XP_047299106.1:p.Lys127Glu, XP_047299087.1:p.Lys127Glu, XP_047299110.1:p.Lys127Glu, XP_047299107.1:p.Lys96Glu, XP_047299117.1:p.Lys96Glu, XP_047299118.1:p.Lys127Glu, XP_047299114.1:p.Lys96Glu, XP_047299111.1:p.Lys127Glu, XP_047299121.1:p.Lys127Glu, XP_047299119.1:p.Lys96Glu, XP_047299122.1:p.Lys127Glu, XP_047299124.1:p.Lys96Glu, XP_047299123.1:p.Lys35Glu, XP_047299125.1:p.Lys127Glu

                              15.

                              rs1476511608 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:178320383 (GRCh38)
                                2:179185110 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:178320382:T:C
                                Gene:
                                OSBPL6 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000094/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1474736435 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:178395481 (GRCh38)
                                  2:179260208 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:178395480:C:T
                                  Gene:
                                  OSBPL6 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.178395481C>T, NC_000002.11:g.179260208C>T, NM_032523.4:c.2727C>T, NM_032523.3:c.2727C>T, XM_017003265.3:c.2868C>T, XM_017003265.2:c.2868C>T, XM_017003265.1:c.2868C>T, XM_017003267.3:c.2802C>T, XM_017003267.2:c.2802C>T, XM_017003267.1:c.2802C>T, XM_011510539.3:c.2709C>T, XM_011510539.2:c.2709C>T, XM_011510539.1:c.2709C>T, XM_017003268.3:c.2694C>T, XM_017003268.2:c.2694C>T, XM_017003268.1:c.2694C>T, XM_017003269.3:c.2694C>T, XM_017003269.2:c.2694C>T, XM_017003269.1:c.2694C>T, XM_017003272.3:c.2601C>T, XM_017003272.2:c.2601C>T, XM_017003272.1:c.2601C>T, XM_017003271.3:c.2619C>T, XM_017003271.2:c.2619C>T, XM_017003271.1:c.2619C>T, XM_017003273.3:c.2541C>T, XM_017003273.2:c.2541C>T, XM_017003273.1:c.2541C>T, XM_017003276.3:c.2526C>T, XM_017003276.2:c.2526C>T, XM_017003276.1:c.2526C>T, XM_017003274.3:c.2526C>T, XM_017003274.2:c.2526C>T, XM_017003274.1:c.2526C>T, XM_017003277.3:c.2433C>T, XM_017003277.2:c.2433C>T, XM_017003277.1:c.2433C>T, NM_145739.3:c.2739C>T, NM_145739.2:c.2739C>T, XM_017003266.2:c.2802C>T, XM_017003266.1:c.2802C>T, NM_001201480.2:c.2802C>T, NM_001201480.1:c.2802C>T, NM_001201481.2:c.2634C>T, NM_001201481.1:c.2634C>T, NM_001201482.2:c.2619C>T, NM_001201482.1:c.2619C>T, XM_047443123.1:c.2868C>T, XM_047443129.1:c.2727C>T, XM_047443124.1:c.2802C>T, XM_047443149.1:c.2694C>T, XM_047443126.1:c.2727C>T, XM_047443127.1:c.2727C>T, XM_047443125.1:c.2793C>T, XM_047443145.1:c.2709C>T, XM_047443144.1:c.2709C>T, XM_047443132.1:c.2727C>T, XM_047443130.1:c.2727C>T, XM_047443156.1:c.2634C>T, XM_047443152.1:c.2634C>T, XM_047443153.1:c.2634C>T, XM_047443146.1:c.2709C>T, XM_047443147.1:c.2700C>T, XM_047443134.1:c.2709C>T, XM_047443159.1:c.2619C>T, XM_047443160.1:c.2619C>T, XM_047443150.1:c.2694C>T, XM_047443131.1:c.2727C>T, XM_047443154.1:c.2634C>T, XM_047443151.1:c.2634C>T, XM_047443161.1:c.2616C>T, XM_047443162.1:c.2601C>T, XM_047443158.1:c.2634C>T, XM_047443155.1:c.2634C>T, XM_047443165.1:c.2526C>T, XM_047443163.1:c.2541C>T, XM_047443166.1:c.2526C>T, XM_047443168.1:c.2433C>T, XM_047443167.1:c.2451C>T

                                  17.

                                  rs1472991022 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:178389084 (GRCh38)
                                    2:179253811 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:178389083:A:G
                                    Gene:
                                    OSBPL6 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                    HGVS:
                                    NC_000002.12:g.178389084A>G, NC_000002.11:g.179253811A>G, NM_032523.4:c.2232A>G, NM_032523.3:c.2232A>G, XM_017003265.3:c.2373A>G, XM_017003265.2:c.2373A>G, XM_017003265.1:c.2373A>G, XM_017003267.3:c.2307A>G, XM_017003267.2:c.2307A>G, XM_017003267.1:c.2307A>G, XM_011510539.3:c.2214A>G, XM_011510539.2:c.2214A>G, XM_011510539.1:c.2214A>G, XM_017003268.3:c.2199A>G, XM_017003268.2:c.2199A>G, XM_017003268.1:c.2199A>G, XM_017003269.3:c.2199A>G, XM_017003269.2:c.2199A>G, XM_017003269.1:c.2199A>G, XM_017003272.3:c.2106A>G, XM_017003272.2:c.2106A>G, XM_017003272.1:c.2106A>G, XM_017003271.3:c.2124A>G, XM_017003271.2:c.2124A>G, XM_017003271.1:c.2124A>G, XM_017003273.3:c.2046A>G, XM_017003273.2:c.2046A>G, XM_017003273.1:c.2046A>G, XM_017003276.3:c.2031A>G, XM_017003276.2:c.2031A>G, XM_017003276.1:c.2031A>G, XM_017003274.3:c.2031A>G, XM_017003274.2:c.2031A>G, XM_017003274.1:c.2031A>G, XM_017003277.3:c.1938A>G, XM_017003277.2:c.1938A>G, XM_017003277.1:c.1938A>G, NM_145739.3:c.2244A>G, NM_145739.2:c.2244A>G, XM_017003266.2:c.2307A>G, XM_017003266.1:c.2307A>G, NM_001201480.2:c.2307A>G, NM_001201480.1:c.2307A>G, NM_001201481.2:c.2139A>G, NM_001201481.1:c.2139A>G, NM_001201482.2:c.2124A>G, NM_001201482.1:c.2124A>G, XM_047443123.1:c.2373A>G, XM_047443129.1:c.2232A>G, XM_047443124.1:c.2307A>G, XM_047443149.1:c.2199A>G, XM_047443126.1:c.2232A>G, XM_047443127.1:c.2232A>G, XM_047443125.1:c.2298A>G, XM_047443145.1:c.2214A>G, XM_047443144.1:c.2214A>G, XM_047443132.1:c.2232A>G, XM_047443130.1:c.2232A>G, XM_047443156.1:c.2139A>G, XM_047443152.1:c.2139A>G, XM_047443153.1:c.2139A>G, XM_047443146.1:c.2214A>G, XM_047443147.1:c.2205A>G, XM_047443134.1:c.2214A>G, XM_047443159.1:c.2124A>G, XM_047443160.1:c.2124A>G, XM_047443150.1:c.2199A>G, XM_047443131.1:c.2232A>G, XM_047443154.1:c.2139A>G, XM_047443151.1:c.2139A>G, XM_047443161.1:c.2121A>G, XM_047443162.1:c.2106A>G, XM_047443158.1:c.2139A>G, XM_047443155.1:c.2139A>G, XM_047443165.1:c.2031A>G, XM_047443163.1:c.2046A>G, XM_047443166.1:c.2031A>G, XM_047443168.1:c.1938A>G, XM_047443167.1:c.1956A>G

                                    18.

                                    rs1472228671 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      2:178344309 (GRCh38)
                                      2:179209036 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:178344308:G:T
                                      Gene:
                                      OSBPL6 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.178344309G>T, NC_000002.11:g.179209036G>T, XM_017003265.3:c.1077G>T, XM_017003265.2:c.1077G>T, XM_017003265.1:c.1077G>T, XM_017003267.3:c.1011G>T, XM_017003267.2:c.1011G>T, XM_017003267.1:c.1011G>T, XM_011510539.3:c.918G>T, XM_011510539.2:c.918G>T, XM_011510539.1:c.918G>T, XM_017003268.3:c.1011G>T, XM_017003268.2:c.1011G>T, XM_017003268.1:c.1011G>T, XM_017003269.3:c.1011G>T, XM_017003269.2:c.1011G>T, XM_017003269.1:c.1011G>T, XM_017003272.3:c.918G>T, XM_017003272.2:c.918G>T, XM_017003272.1:c.918G>T, NM_145739.3:c.948G>T, NM_145739.2:c.948G>T, XM_017003266.2:c.1011G>T, XM_017003266.1:c.1011G>T, NM_001201480.2:c.1011G>T, NM_001201480.1:c.1011G>T, XM_047443123.1:c.1077G>T, XM_047443124.1:c.1011G>T, XM_047443149.1:c.1011G>T, XM_047443145.1:c.918G>T, XM_047443144.1:c.918G>T, XM_047443146.1:c.918G>T, XM_047443134.1:c.918G>T, XM_047443150.1:c.1011G>T, XM_047443161.1:c.825G>T, XM_047443162.1:c.918G>T, XP_016858754.1:p.Gln359His, XP_016858756.1:p.Gln337His, XP_011508841.1:p.Gln306His, XP_016858757.1:p.Gln337His, XP_016858758.1:p.Gln337His, XP_016858761.1:p.Gln306His, NP_665682.1:p.Gln316His, XP_016858755.1:p.Gln337His, NP_001188409.1:p.Gln337His, XP_047299079.1:p.Gln359His, XP_047299080.1:p.Gln337His, XP_047299105.1:p.Gln337His, XP_047299101.1:p.Gln306His, XP_047299100.1:p.Gln306His, XP_047299102.1:p.Gln306His, XP_047299090.1:p.Gln306His, XP_047299106.1:p.Gln337His, XP_047299117.1:p.Gln275His, XP_047299118.1:p.Gln306His

                                      19.

                                      rs1470857037 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:178373897 (GRCh38)
                                        2:179238624 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:178373896:A:G
                                        Gene:
                                        OSBPL6 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.178373897A>G, NC_000002.11:g.179238624A>G, NM_032523.4:c.1403A>G, NM_032523.3:c.1403A>G, XM_017003265.3:c.1544A>G, XM_017003265.2:c.1544A>G, XM_017003265.1:c.1544A>G, XM_017003267.3:c.1478A>G, XM_017003267.2:c.1478A>G, XM_017003267.1:c.1478A>G, XM_011510539.3:c.1385A>G, XM_011510539.2:c.1385A>G, XM_011510539.1:c.1385A>G, XM_017003268.3:c.1370A>G, XM_017003268.2:c.1370A>G, XM_017003268.1:c.1370A>G, XM_017003269.3:c.1370A>G, XM_017003269.2:c.1370A>G, XM_017003269.1:c.1370A>G, XM_017003272.3:c.1277A>G, XM_017003272.2:c.1277A>G, XM_017003272.1:c.1277A>G, XM_017003271.3:c.1295A>G, XM_017003271.2:c.1295A>G, XM_017003271.1:c.1295A>G, XM_017003273.3:c.1217A>G, XM_017003273.2:c.1217A>G, XM_017003273.1:c.1217A>G, XM_017003276.3:c.1202A>G, XM_017003276.2:c.1202A>G, XM_017003276.1:c.1202A>G, XM_017003274.3:c.1202A>G, XM_017003274.2:c.1202A>G, XM_017003274.1:c.1202A>G, XM_017003277.3:c.1109A>G, XM_017003277.2:c.1109A>G, XM_017003277.1:c.1109A>G, NM_145739.3:c.1415A>G, NM_145739.2:c.1415A>G, XM_017003266.2:c.1478A>G, XM_017003266.1:c.1478A>G, NM_001201480.2:c.1478A>G, NM_001201480.1:c.1478A>G, NM_001201481.2:c.1310A>G, NM_001201481.1:c.1310A>G, NM_001201482.2:c.1295A>G, NM_001201482.1:c.1295A>G, XM_047443123.1:c.1544A>G, XM_047443129.1:c.1403A>G, XM_047443124.1:c.1478A>G, XM_047443149.1:c.1370A>G, XM_047443126.1:c.1403A>G, XM_047443127.1:c.1403A>G, XM_047443125.1:c.1469A>G, XM_047443145.1:c.1385A>G, XM_047443144.1:c.1385A>G, XM_047443132.1:c.1403A>G, XM_047443130.1:c.1403A>G, XM_047443156.1:c.1310A>G, XM_047443152.1:c.1310A>G, XM_047443153.1:c.1310A>G, XM_047443146.1:c.1385A>G, XM_047443147.1:c.1376A>G, XM_047443134.1:c.1385A>G, XM_047443159.1:c.1295A>G, XM_047443160.1:c.1295A>G, XM_047443150.1:c.1370A>G, XM_047443131.1:c.1403A>G, XM_047443154.1:c.1310A>G, XM_047443151.1:c.1310A>G, XM_047443161.1:c.1292A>G, XM_047443162.1:c.1277A>G, XM_047443158.1:c.1310A>G, XM_047443155.1:c.1310A>G, XM_047443165.1:c.1202A>G, XM_047443163.1:c.1217A>G, XM_047443166.1:c.1202A>G, XM_047443168.1:c.1109A>G, XM_047443167.1:c.1127A>G, XM_047443169.1:c.1202A>G, NP_115912.1:p.Glu468Gly, XP_016858754.1:p.Glu515Gly, XP_016858756.1:p.Glu493Gly, XP_011508841.1:p.Glu462Gly, XP_016858757.1:p.Glu457Gly, XP_016858758.1:p.Glu457Gly, XP_016858761.1:p.Glu426Gly, XP_016858760.1:p.Glu432Gly, XP_016858762.1:p.Glu406Gly, XP_016858765.1:p.Glu401Gly, XP_016858763.1:p.Glu401Gly, XP_016858766.1:p.Glu370Gly, NP_665682.1:p.Glu472Gly, XP_016858755.1:p.Glu493Gly, NP_001188409.1:p.Glu493Gly, NP_001188410.1:p.Glu437Gly, NP_001188411.1:p.Glu432Gly, XP_047299079.1:p.Glu515Gly, XP_047299085.1:p.Glu468Gly, XP_047299080.1:p.Glu493Gly, XP_047299105.1:p.Glu457Gly, XP_047299082.1:p.Glu468Gly, XP_047299083.1:p.Glu468Gly, XP_047299081.1:p.Glu490Gly, XP_047299101.1:p.Glu462Gly, XP_047299100.1:p.Glu462Gly, XP_047299088.1:p.Glu468Gly, XP_047299086.1:p.Glu468Gly, XP_047299112.1:p.Glu437Gly, XP_047299108.1:p.Glu437Gly, XP_047299109.1:p.Glu437Gly, XP_047299102.1:p.Glu462Gly, XP_047299103.1:p.Glu459Gly, XP_047299090.1:p.Glu462Gly, XP_047299115.1:p.Glu432Gly, XP_047299116.1:p.Glu432Gly, XP_047299106.1:p.Glu457Gly, XP_047299087.1:p.Glu468Gly, XP_047299110.1:p.Glu437Gly, XP_047299107.1:p.Glu437Gly, XP_047299117.1:p.Glu431Gly, XP_047299118.1:p.Glu426Gly, XP_047299114.1:p.Glu437Gly, XP_047299111.1:p.Glu437Gly, XP_047299121.1:p.Glu401Gly, XP_047299119.1:p.Glu406Gly, XP_047299122.1:p.Glu401Gly, XP_047299124.1:p.Glu370Gly, XP_047299123.1:p.Glu376Gly, XP_047299125.1:p.Glu401Gly

                                        20.

                                        rs1470064250 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:178374010 (GRCh38)
                                          2:179238737 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:178374009:A:G
                                          Gene:
                                          OSBPL6 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.178374010A>G, NC_000002.11:g.179238737A>G, NM_032523.4:c.1516A>G, NM_032523.3:c.1516A>G, XM_017003265.3:c.1657A>G, XM_017003265.2:c.1657A>G, XM_017003265.1:c.1657A>G, XM_017003267.3:c.1591A>G, XM_017003267.2:c.1591A>G, XM_017003267.1:c.1591A>G, XM_011510539.3:c.1498A>G, XM_011510539.2:c.1498A>G, XM_011510539.1:c.1498A>G, XM_017003268.3:c.1483A>G, XM_017003268.2:c.1483A>G, XM_017003268.1:c.1483A>G, XM_017003269.3:c.1483A>G, XM_017003269.2:c.1483A>G, XM_017003269.1:c.1483A>G, XM_017003272.3:c.1390A>G, XM_017003272.2:c.1390A>G, XM_017003272.1:c.1390A>G, XM_017003271.3:c.1408A>G, XM_017003271.2:c.1408A>G, XM_017003271.1:c.1408A>G, XM_017003273.3:c.1330A>G, XM_017003273.2:c.1330A>G, XM_017003273.1:c.1330A>G, XM_017003276.3:c.1315A>G, XM_017003276.2:c.1315A>G, XM_017003276.1:c.1315A>G, XM_017003274.3:c.1315A>G, XM_017003274.2:c.1315A>G, XM_017003274.1:c.1315A>G, XM_017003277.3:c.1222A>G, XM_017003277.2:c.1222A>G, XM_017003277.1:c.1222A>G, NM_145739.3:c.1528A>G, NM_145739.2:c.1528A>G, XM_017003266.2:c.1591A>G, XM_017003266.1:c.1591A>G, NM_001201480.2:c.1591A>G, NM_001201480.1:c.1591A>G, NM_001201481.2:c.1423A>G, NM_001201481.1:c.1423A>G, NM_001201482.2:c.1408A>G, NM_001201482.1:c.1408A>G, XM_047443123.1:c.1657A>G, XM_047443129.1:c.1516A>G, XM_047443124.1:c.1591A>G, XM_047443149.1:c.1483A>G, XM_047443126.1:c.1516A>G, XM_047443127.1:c.1516A>G, XM_047443125.1:c.1582A>G, XM_047443145.1:c.1498A>G, XM_047443144.1:c.1498A>G, XM_047443132.1:c.1516A>G, XM_047443130.1:c.1516A>G, XM_047443156.1:c.1423A>G, XM_047443152.1:c.1423A>G, XM_047443153.1:c.1423A>G, XM_047443146.1:c.1498A>G, XM_047443147.1:c.1489A>G, XM_047443134.1:c.1498A>G, XM_047443159.1:c.1408A>G, XM_047443160.1:c.1408A>G, XM_047443150.1:c.1483A>G, XM_047443131.1:c.1516A>G, XM_047443154.1:c.1423A>G, XM_047443151.1:c.1423A>G, XM_047443161.1:c.1405A>G, XM_047443162.1:c.1390A>G, XM_047443158.1:c.1423A>G, XM_047443155.1:c.1423A>G, XM_047443165.1:c.1315A>G, XM_047443163.1:c.1330A>G, XM_047443166.1:c.1315A>G, XM_047443168.1:c.1222A>G, XM_047443167.1:c.1240A>G, XM_047443169.1:c.1315A>G, NP_115912.1:p.Ser506Gly, XP_016858754.1:p.Ser553Gly, XP_016858756.1:p.Ser531Gly, XP_011508841.1:p.Ser500Gly, XP_016858757.1:p.Ser495Gly, XP_016858758.1:p.Ser495Gly, XP_016858761.1:p.Ser464Gly, XP_016858760.1:p.Ser470Gly, XP_016858762.1:p.Ser444Gly, XP_016858765.1:p.Ser439Gly, XP_016858763.1:p.Ser439Gly, XP_016858766.1:p.Ser408Gly, NP_665682.1:p.Ser510Gly, XP_016858755.1:p.Ser531Gly, NP_001188409.1:p.Ser531Gly, NP_001188410.1:p.Ser475Gly, NP_001188411.1:p.Ser470Gly, XP_047299079.1:p.Ser553Gly, XP_047299085.1:p.Ser506Gly, XP_047299080.1:p.Ser531Gly, XP_047299105.1:p.Ser495Gly, XP_047299082.1:p.Ser506Gly, XP_047299083.1:p.Ser506Gly, XP_047299081.1:p.Ser528Gly, XP_047299101.1:p.Ser500Gly, XP_047299100.1:p.Ser500Gly, XP_047299088.1:p.Ser506Gly, XP_047299086.1:p.Ser506Gly, XP_047299112.1:p.Ser475Gly, XP_047299108.1:p.Ser475Gly, XP_047299109.1:p.Ser475Gly, XP_047299102.1:p.Ser500Gly, XP_047299103.1:p.Ser497Gly, XP_047299090.1:p.Ser500Gly, XP_047299115.1:p.Ser470Gly, XP_047299116.1:p.Ser470Gly, XP_047299106.1:p.Ser495Gly, XP_047299087.1:p.Ser506Gly, XP_047299110.1:p.Ser475Gly, XP_047299107.1:p.Ser475Gly, XP_047299117.1:p.Ser469Gly, XP_047299118.1:p.Ser464Gly, XP_047299114.1:p.Ser475Gly, XP_047299111.1:p.Ser475Gly, XP_047299121.1:p.Ser439Gly, XP_047299119.1:p.Ser444Gly, XP_047299122.1:p.Ser439Gly, XP_047299124.1:p.Ser408Gly, XP_047299123.1:p.Ser414Gly, XP_047299125.1:p.Ser439Gly

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