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Items: 1 to 20 of 366

1.

rs1486205977 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:51787480 (GRCh38)
    1:52253152 (GRCh37)
    Canonical SPDI:
    NC_000001.11:51787479:G:A
    Gene:
    OSBPL9 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.51787480G>A, NC_000001.10:g.52253152G>A, NG_029171.2:g.96458C>T, NM_024586.6:c.2128G>A, NM_024586.5:c.2128G>A, NM_148909.4:c.2158G>A, NM_148909.3:c.2158G>A, NM_148908.4:c.2089G>A, NM_148908.3:c.2089G>A, NM_148904.4:c.1594G>A, NM_148904.3:c.1594G>A, XM_006710320.4:c.1837G>A, XM_006710320.3:c.1837G>A, XM_006710320.2:c.1837G>A, XM_006710320.1:c.1837G>A, NM_148905.4:c.1594G>A, NM_148905.3:c.1594G>A, XM_011540599.3:c.2197G>A, XM_011540599.2:c.2197G>A, XM_011540599.1:c.2197G>A, XM_011540600.3:c.2167G>A, XM_011540600.2:c.2167G>A, XM_011540600.1:c.2167G>A, XM_011540601.3:c.2128G>A, XM_011540601.2:c.2128G>A, XM_011540601.1:c.2128G>A, XM_006710318.3:c.2098G>A, XM_006710318.2:c.2098G>A, XM_006710318.1:c.2098G>A, NM_148906.3:c.2077G>A, NM_148906.2:c.2077G>A, XM_006710321.3:c.1807G>A, XM_006710321.2:c.1807G>A, XM_006710321.1:c.1807G>A, NM_148907.3:c.1798G>A, NM_148907.2:c.1798G>A, XM_011540604.3:c.1633G>A, XM_011540604.2:c.1633G>A, XM_011540604.1:c.1633G>A, XM_017000221.3:c.1594G>A, XM_017000221.2:c.1594G>A, XM_017000221.1:c.1594G>A, NM_001350208.2:c.1570G>A, NM_001350208.1:c.1570G>A, NM_001350209.2:c.1570G>A, NM_001350209.1:c.1570G>A, NM_001350210.2:c.1483G>A, NM_001350210.1:c.1483G>A, NM_001330580.2:c.1633G>A, NM_001330580.1:c.1633G>A, XM_017000218.2:c.2059G>A, XM_017000218.1:c.2059G>A, NR_036662.2:n.2068G>A, NR_036662.1:n.2286G>A, XM_047443908.1:c.1633G>A, XM_047443893.1:c.2005G>A, XM_047443896.1:c.1966G>A, XM_047443906.1:c.1633G>A, XM_047443899.1:c.1768G>A, NP_078862.4:p.Glu710Lys, NP_683707.3:p.Glu720Lys, NP_683706.3:p.Glu697Lys, NP_683702.1:p.Glu532Lys, XP_006710383.1:p.Glu613Lys, NP_683703.1:p.Glu532Lys, XP_011538901.1:p.Glu733Lys, XP_011538902.1:p.Glu723Lys, XP_011538903.1:p.Glu710Lys, XP_006710381.1:p.Glu700Lys, NP_683704.2:p.Glu693Lys, XP_006710384.1:p.Glu603Lys, NP_683705.1:p.Glu600Lys, XP_011538906.1:p.Glu545Lys, XP_016855710.1:p.Glu532Lys, NP_001337137.1:p.Glu524Lys, NP_001337138.1:p.Glu524Lys, NP_001337139.1:p.Glu495Lys, NP_001317509.1:p.Glu545Lys, XP_016855707.1:p.Glu687Lys, XP_047299864.1:p.Glu545Lys, XP_047299849.1:p.Glu669Lys, XP_047299852.1:p.Glu656Lys, XP_047299862.1:p.Glu545Lys, XP_047299855.1:p.Glu590Lys

    2.

    rs1483936271 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:51782559 (GRCh38)
      1:52248231 (GRCh37)
      Canonical SPDI:
      NC_000001.11:51782558:G:A
      Gene:
      OSBPL9 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.51782559G>A, NC_000001.10:g.52248231G>A, NM_024586.6:c.1429G>A, NM_024586.5:c.1429G>A, NM_148909.4:c.1459G>A, NM_148909.3:c.1459G>A, NM_148908.4:c.1390G>A, NM_148908.3:c.1390G>A, NM_148904.4:c.895G>A, NM_148904.3:c.895G>A, XM_006710320.4:c.1138G>A, XM_006710320.3:c.1138G>A, XM_006710320.2:c.1138G>A, XM_006710320.1:c.1138G>A, NM_148905.4:c.895G>A, NM_148905.3:c.895G>A, XM_011540599.3:c.1498G>A, XM_011540599.2:c.1498G>A, XM_011540599.1:c.1498G>A, XM_011540600.3:c.1468G>A, XM_011540600.2:c.1468G>A, XM_011540600.1:c.1468G>A, XM_011540601.3:c.1429G>A, XM_011540601.2:c.1429G>A, XM_011540601.1:c.1429G>A, XM_006710318.3:c.1399G>A, XM_006710318.2:c.1399G>A, XM_006710318.1:c.1399G>A, NM_148906.3:c.1378G>A, NM_148906.2:c.1378G>A, XM_006710321.3:c.1108G>A, XM_006710321.2:c.1108G>A, XM_006710321.1:c.1108G>A, NM_148907.3:c.1099G>A, NM_148907.2:c.1099G>A, XM_011540604.3:c.934G>A, XM_011540604.2:c.934G>A, XM_011540604.1:c.934G>A, XM_017000221.3:c.895G>A, XM_017000221.2:c.895G>A, XM_017000221.1:c.895G>A, NM_001350208.2:c.871G>A, NM_001350208.1:c.871G>A, NM_001350209.2:c.871G>A, NM_001350209.1:c.871G>A, NM_001350210.2:c.784G>A, NM_001350210.1:c.784G>A, NM_001330580.2:c.934G>A, NM_001330580.1:c.934G>A, XM_017000218.2:c.1360G>A, XM_017000218.1:c.1360G>A, NR_036662.2:n.1369G>A, NR_036662.1:n.1587G>A, XM_047443908.1:c.934G>A, XM_047443893.1:c.1306G>A, XM_047443896.1:c.1267G>A, XM_047443906.1:c.934G>A, XM_047443899.1:c.1069G>A, NP_078862.4:p.Glu477Lys, NP_683707.3:p.Glu487Lys, NP_683706.3:p.Glu464Lys, NP_683702.1:p.Glu299Lys, XP_006710383.1:p.Glu380Lys, NP_683703.1:p.Glu299Lys, XP_011538901.1:p.Glu500Lys, XP_011538902.1:p.Glu490Lys, XP_011538903.1:p.Glu477Lys, XP_006710381.1:p.Glu467Lys, NP_683704.2:p.Glu460Lys, XP_006710384.1:p.Glu370Lys, NP_683705.1:p.Glu367Lys, XP_011538906.1:p.Glu312Lys, XP_016855710.1:p.Glu299Lys, NP_001337137.1:p.Glu291Lys, NP_001337138.1:p.Glu291Lys, NP_001337139.1:p.Glu262Lys, NP_001317509.1:p.Glu312Lys, XP_016855707.1:p.Glu454Lys, XP_047299864.1:p.Glu312Lys, XP_047299849.1:p.Glu436Lys, XP_047299852.1:p.Glu423Lys, XP_047299862.1:p.Glu312Lys, XP_047299855.1:p.Glu357Lys

      3.

      rs1482863169 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:51786603 (GRCh38)
        1:52252275 (GRCh37)
        Canonical SPDI:
        NC_000001.11:51786602:G:A
        Gene:
        OSBPL9 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.51786603G>A, NC_000001.10:g.52252275G>A, NM_024586.6:c.1986G>A, NM_024586.5:c.1986G>A, NM_148909.4:c.2016G>A, NM_148909.3:c.2016G>A, NM_148908.4:c.1947G>A, NM_148908.3:c.1947G>A, NM_148904.4:c.1452G>A, NM_148904.3:c.1452G>A, XM_006710320.4:c.1695G>A, XM_006710320.3:c.1695G>A, XM_006710320.2:c.1695G>A, XM_006710320.1:c.1695G>A, NM_148905.4:c.1452G>A, NM_148905.3:c.1452G>A, XM_011540599.3:c.2055G>A, XM_011540599.2:c.2055G>A, XM_011540599.1:c.2055G>A, XM_011540600.3:c.2025G>A, XM_011540600.2:c.2025G>A, XM_011540600.1:c.2025G>A, XM_011540601.3:c.1986G>A, XM_011540601.2:c.1986G>A, XM_011540601.1:c.1986G>A, XM_006710318.3:c.1956G>A, XM_006710318.2:c.1956G>A, XM_006710318.1:c.1956G>A, NM_148906.3:c.1935G>A, NM_148906.2:c.1935G>A, XM_006710321.3:c.1665G>A, XM_006710321.2:c.1665G>A, XM_006710321.1:c.1665G>A, NM_148907.3:c.1656G>A, NM_148907.2:c.1656G>A, XM_011540604.3:c.1491G>A, XM_011540604.2:c.1491G>A, XM_011540604.1:c.1491G>A, XM_017000221.3:c.1452G>A, XM_017000221.2:c.1452G>A, XM_017000221.1:c.1452G>A, NM_001350208.2:c.1428G>A, NM_001350208.1:c.1428G>A, NM_001350209.2:c.1428G>A, NM_001350209.1:c.1428G>A, NM_001350210.2:c.1341G>A, NM_001350210.1:c.1341G>A, NM_001330580.2:c.1491G>A, NM_001330580.1:c.1491G>A, XM_017000218.2:c.1917G>A, XM_017000218.1:c.1917G>A, NR_036662.2:n.1926G>A, NR_036662.1:n.2144G>A, XM_047443908.1:c.1491G>A, XM_047443893.1:c.1863G>A, XM_047443896.1:c.1824G>A, XM_047443906.1:c.1491G>A, XM_047443899.1:c.1626G>A

        4.

        rs1482400529 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          1:51761883 (GRCh38)
          1:52227555 (GRCh37)
          Canonical SPDI:
          NC_000001.11:51761882:T:G
          Gene:
          OSBPL9 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000111/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.51761883T>G, NC_000001.10:g.52227555T>G, NM_024586.6:c.690T>G, NM_024586.5:c.690T>G, NM_148909.4:c.720T>G, NM_148909.3:c.720T>G, NM_148908.4:c.651T>G, NM_148908.3:c.651T>G, NM_148904.4:c.156T>G, NM_148904.3:c.156T>G, XM_006710320.4:c.399T>G, XM_006710320.3:c.399T>G, XM_006710320.2:c.399T>G, XM_006710320.1:c.399T>G, NM_148905.4:c.156T>G, NM_148905.3:c.156T>G, XM_011540599.3:c.759T>G, XM_011540599.2:c.759T>G, XM_011540599.1:c.759T>G, XM_011540600.3:c.729T>G, XM_011540600.2:c.729T>G, XM_011540600.1:c.729T>G, XM_011540601.3:c.690T>G, XM_011540601.2:c.690T>G, XM_011540601.1:c.690T>G, XM_006710318.3:c.660T>G, XM_006710318.2:c.660T>G, XM_006710318.1:c.660T>G, NM_148906.3:c.639T>G, NM_148906.2:c.639T>G, XM_006710321.3:c.369T>G, XM_006710321.2:c.369T>G, XM_006710321.1:c.369T>G, NM_148907.3:c.360T>G, NM_148907.2:c.360T>G, XM_011540604.3:c.195T>G, XM_011540604.2:c.195T>G, XM_011540604.1:c.195T>G, XM_017000221.3:c.156T>G, XM_017000221.2:c.156T>G, XM_017000221.1:c.156T>G, NM_001350208.2:c.132T>G, NM_001350208.1:c.132T>G, NM_001350209.2:c.132T>G, NM_001350209.1:c.132T>G, NM_001350210.2:c.45T>G, NM_001350210.1:c.45T>G, NM_001330580.2:c.195T>G, NM_001330580.1:c.195T>G, XM_017000218.2:c.621T>G, XM_017000218.1:c.621T>G, NR_036662.2:n.630T>G, NR_036662.1:n.848T>G, XM_047443908.1:c.195T>G, XM_047443893.1:c.567T>G, XM_047443896.1:c.528T>G, XM_047443906.1:c.195T>G, XM_047443899.1:c.330T>G, XM_047443916.1:c.759T>G, NP_078862.4:p.Cys230Trp, NP_683707.3:p.Cys240Trp, NP_683706.3:p.Cys217Trp, NP_683702.1:p.Cys52Trp, XP_006710383.1:p.Cys133Trp, NP_683703.1:p.Cys52Trp, XP_011538901.1:p.Cys253Trp, XP_011538902.1:p.Cys243Trp, XP_011538903.1:p.Cys230Trp, XP_006710381.1:p.Cys220Trp, NP_683704.2:p.Cys213Trp, XP_006710384.1:p.Cys123Trp, NP_683705.1:p.Cys120Trp, XP_011538906.1:p.Cys65Trp, XP_016855710.1:p.Cys52Trp, NP_001337137.1:p.Cys44Trp, NP_001337138.1:p.Cys44Trp, NP_001337139.1:p.Cys15Trp, NP_001317509.1:p.Cys65Trp, XP_016855707.1:p.Cys207Trp, XP_047299864.1:p.Cys65Trp, XP_047299849.1:p.Cys189Trp, XP_047299852.1:p.Cys176Trp, XP_047299862.1:p.Cys65Trp, XP_047299855.1:p.Cys110Trp, XP_047299872.1:p.Cys253Trp

          5.

          rs1477151018 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:51761966 (GRCh38)
            1:52227638 (GRCh37)
            Canonical SPDI:
            NC_000001.11:51761965:G:A
            Gene:
            OSBPL9 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000001.11:g.51761966G>A, NC_000001.10:g.52227638G>A, NM_024586.6:c.773G>A, NM_024586.5:c.773G>A, NM_148909.4:c.803G>A, NM_148909.3:c.803G>A, NM_148908.4:c.734G>A, NM_148908.3:c.734G>A, NM_148904.4:c.239G>A, NM_148904.3:c.239G>A, XM_006710320.4:c.482G>A, XM_006710320.3:c.482G>A, XM_006710320.2:c.482G>A, XM_006710320.1:c.482G>A, NM_148905.4:c.239G>A, NM_148905.3:c.239G>A, XM_011540599.3:c.842G>A, XM_011540599.2:c.842G>A, XM_011540599.1:c.842G>A, XM_011540600.3:c.812G>A, XM_011540600.2:c.812G>A, XM_011540600.1:c.812G>A, XM_011540601.3:c.773G>A, XM_011540601.2:c.773G>A, XM_011540601.1:c.773G>A, XM_006710318.3:c.743G>A, XM_006710318.2:c.743G>A, XM_006710318.1:c.743G>A, NM_148906.3:c.722G>A, NM_148906.2:c.722G>A, XM_006710321.3:c.452G>A, XM_006710321.2:c.452G>A, XM_006710321.1:c.452G>A, NM_148907.3:c.443G>A, NM_148907.2:c.443G>A, XM_011540604.3:c.278G>A, XM_011540604.2:c.278G>A, XM_011540604.1:c.278G>A, XM_017000221.3:c.239G>A, XM_017000221.2:c.239G>A, XM_017000221.1:c.239G>A, NM_001350208.2:c.215G>A, NM_001350208.1:c.215G>A, NM_001350209.2:c.215G>A, NM_001350209.1:c.215G>A, NM_001350210.2:c.128G>A, NM_001350210.1:c.128G>A, NM_001330580.2:c.278G>A, NM_001330580.1:c.278G>A, XM_017000218.2:c.704G>A, XM_017000218.1:c.704G>A, NR_036662.2:n.713G>A, NR_036662.1:n.931G>A, XM_047443908.1:c.278G>A, XM_047443893.1:c.650G>A, XM_047443896.1:c.611G>A, XM_047443906.1:c.278G>A, XM_047443899.1:c.413G>A, XM_047443916.1:c.842G>A, NP_078862.4:p.Ser258Asn, NP_683707.3:p.Ser268Asn, NP_683706.3:p.Ser245Asn, NP_683702.1:p.Ser80Asn, XP_006710383.1:p.Ser161Asn, NP_683703.1:p.Ser80Asn, XP_011538901.1:p.Ser281Asn, XP_011538902.1:p.Ser271Asn, XP_011538903.1:p.Ser258Asn, XP_006710381.1:p.Ser248Asn, NP_683704.2:p.Ser241Asn, XP_006710384.1:p.Ser151Asn, NP_683705.1:p.Ser148Asn, XP_011538906.1:p.Ser93Asn, XP_016855710.1:p.Ser80Asn, NP_001337137.1:p.Ser72Asn, NP_001337138.1:p.Ser72Asn, NP_001337139.1:p.Ser43Asn, NP_001317509.1:p.Ser93Asn, XP_016855707.1:p.Ser235Asn, XP_047299864.1:p.Ser93Asn, XP_047299849.1:p.Ser217Asn, XP_047299852.1:p.Ser204Asn, XP_047299862.1:p.Ser93Asn, XP_047299855.1:p.Ser138Asn, XP_047299872.1:p.Ser281Asn

            6.

            rs1475712345 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:51787376 (GRCh38)
              1:52253048 (GRCh37)
              Canonical SPDI:
              NC_000001.11:51787375:A:G
              Gene:
              OSBPL9 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.51787376A>G, NC_000001.10:g.52253048A>G, NG_029171.2:g.96562T>C, NM_024586.6:c.2024A>G, NM_024586.5:c.2024A>G, NM_148909.4:c.2054A>G, NM_148909.3:c.2054A>G, NM_148908.4:c.1985A>G, NM_148908.3:c.1985A>G, NM_148904.4:c.1490A>G, NM_148904.3:c.1490A>G, XM_006710320.4:c.1733A>G, XM_006710320.3:c.1733A>G, XM_006710320.2:c.1733A>G, XM_006710320.1:c.1733A>G, NM_148905.4:c.1490A>G, NM_148905.3:c.1490A>G, XM_011540599.3:c.2093A>G, XM_011540599.2:c.2093A>G, XM_011540599.1:c.2093A>G, XM_011540600.3:c.2063A>G, XM_011540600.2:c.2063A>G, XM_011540600.1:c.2063A>G, XM_011540601.3:c.2024A>G, XM_011540601.2:c.2024A>G, XM_011540601.1:c.2024A>G, XM_006710318.3:c.1994A>G, XM_006710318.2:c.1994A>G, XM_006710318.1:c.1994A>G, NM_148906.3:c.1973A>G, NM_148906.2:c.1973A>G, XM_006710321.3:c.1703A>G, XM_006710321.2:c.1703A>G, XM_006710321.1:c.1703A>G, NM_148907.3:c.1694A>G, NM_148907.2:c.1694A>G, XM_011540604.3:c.1529A>G, XM_011540604.2:c.1529A>G, XM_011540604.1:c.1529A>G, XM_017000221.3:c.1490A>G, XM_017000221.2:c.1490A>G, XM_017000221.1:c.1490A>G, NM_001350208.2:c.1466A>G, NM_001350208.1:c.1466A>G, NM_001350209.2:c.1466A>G, NM_001350209.1:c.1466A>G, NM_001350210.2:c.1379A>G, NM_001350210.1:c.1379A>G, NM_001330580.2:c.1529A>G, NM_001330580.1:c.1529A>G, XM_017000218.2:c.1955A>G, XM_017000218.1:c.1955A>G, NR_036662.2:n.1964A>G, NR_036662.1:n.2182A>G, XM_047443908.1:c.1529A>G, XM_047443893.1:c.1901A>G, XM_047443896.1:c.1862A>G, XM_047443906.1:c.1529A>G, XM_047443899.1:c.1664A>G, NP_078862.4:p.Asn675Ser, NP_683707.3:p.Asn685Ser, NP_683706.3:p.Asn662Ser, NP_683702.1:p.Asn497Ser, XP_006710383.1:p.Asn578Ser, NP_683703.1:p.Asn497Ser, XP_011538901.1:p.Asn698Ser, XP_011538902.1:p.Asn688Ser, XP_011538903.1:p.Asn675Ser, XP_006710381.1:p.Asn665Ser, NP_683704.2:p.Asn658Ser, XP_006710384.1:p.Asn568Ser, NP_683705.1:p.Asn565Ser, XP_011538906.1:p.Asn510Ser, XP_016855710.1:p.Asn497Ser, NP_001337137.1:p.Asn489Ser, NP_001337138.1:p.Asn489Ser, NP_001337139.1:p.Asn460Ser, NP_001317509.1:p.Asn510Ser, XP_016855707.1:p.Asn652Ser, XP_047299864.1:p.Asn510Ser, XP_047299849.1:p.Asn634Ser, XP_047299852.1:p.Asn621Ser, XP_047299862.1:p.Asn510Ser, XP_047299855.1:p.Asn555Ser

              7.

              rs1473184753 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:51772700 (GRCh38)
                1:52238372 (GRCh37)
                Canonical SPDI:
                NC_000001.11:51772699:A:G
                Gene:
                OSBPL9 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.51772700A>G, NC_000001.10:g.52238372A>G, NM_024586.6:c.1147A>G, NM_024586.5:c.1147A>G, NM_148909.4:c.1177A>G, NM_148909.3:c.1177A>G, NM_148908.4:c.1108A>G, NM_148908.3:c.1108A>G, NM_148904.4:c.613A>G, NM_148904.3:c.613A>G, XM_006710320.4:c.856A>G, XM_006710320.3:c.856A>G, XM_006710320.2:c.856A>G, XM_006710320.1:c.856A>G, NM_148905.4:c.613A>G, NM_148905.3:c.613A>G, XM_011540599.3:c.1216A>G, XM_011540599.2:c.1216A>G, XM_011540599.1:c.1216A>G, XM_011540600.3:c.1186A>G, XM_011540600.2:c.1186A>G, XM_011540600.1:c.1186A>G, XM_011540601.3:c.1147A>G, XM_011540601.2:c.1147A>G, XM_011540601.1:c.1147A>G, XM_006710318.3:c.1117A>G, XM_006710318.2:c.1117A>G, XM_006710318.1:c.1117A>G, NM_148906.3:c.1096A>G, NM_148906.2:c.1096A>G, XM_006710321.3:c.826A>G, XM_006710321.2:c.826A>G, XM_006710321.1:c.826A>G, NM_148907.3:c.817A>G, NM_148907.2:c.817A>G, XM_011540604.3:c.652A>G, XM_011540604.2:c.652A>G, XM_011540604.1:c.652A>G, XM_017000221.3:c.613A>G, XM_017000221.2:c.613A>G, XM_017000221.1:c.613A>G, NM_001350208.2:c.589A>G, NM_001350208.1:c.589A>G, NM_001350209.2:c.589A>G, NM_001350209.1:c.589A>G, NM_001350210.2:c.502A>G, NM_001350210.1:c.502A>G, NM_001330580.2:c.652A>G, NM_001330580.1:c.652A>G, XM_017000218.2:c.1078A>G, XM_017000218.1:c.1078A>G, NR_036662.2:n.1087A>G, NR_036662.1:n.1305A>G, XM_047443908.1:c.652A>G, XM_047443893.1:c.1024A>G, XM_047443896.1:c.985A>G, XM_047443906.1:c.652A>G, XM_047443899.1:c.787A>G, XM_047443916.1:c.1216A>G, NP_078862.4:p.Arg383Gly, NP_683707.3:p.Arg393Gly, NP_683706.3:p.Arg370Gly, NP_683702.1:p.Arg205Gly, XP_006710383.1:p.Arg286Gly, NP_683703.1:p.Arg205Gly, XP_011538901.1:p.Arg406Gly, XP_011538902.1:p.Arg396Gly, XP_011538903.1:p.Arg383Gly, XP_006710381.1:p.Arg373Gly, NP_683704.2:p.Arg366Gly, XP_006710384.1:p.Arg276Gly, NP_683705.1:p.Arg273Gly, XP_011538906.1:p.Arg218Gly, XP_016855710.1:p.Arg205Gly, NP_001337137.1:p.Arg197Gly, NP_001337138.1:p.Arg197Gly, NP_001337139.1:p.Arg168Gly, NP_001317509.1:p.Arg218Gly, XP_016855707.1:p.Arg360Gly, XP_047299864.1:p.Arg218Gly, XP_047299849.1:p.Arg342Gly, XP_047299852.1:p.Arg329Gly, XP_047299862.1:p.Arg218Gly, XP_047299855.1:p.Arg263Gly, XP_047299872.1:p.Arg406Gly

                8.

                rs1462431440 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:51765957 (GRCh38)
                  1:52231629 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:51765956:G:A,NC_000001.11:51765956:G:T
                  Gene:
                  OSBPL9 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by cluster
                  HGVS:
                  NC_000001.11:g.51765957G>A, NC_000001.11:g.51765957G>T, NC_000001.10:g.52231629G>A, NC_000001.10:g.52231629G>T, NM_024586.6:c.914G>A, NM_024586.6:c.914G>T, NM_024586.5:c.914G>A, NM_024586.5:c.914G>T, NM_148909.4:c.944G>A, NM_148909.4:c.944G>T, NM_148909.3:c.944G>A, NM_148909.3:c.944G>T, NM_148908.4:c.875G>A, NM_148908.4:c.875G>T, NM_148908.3:c.875G>A, NM_148908.3:c.875G>T, NM_148904.4:c.380G>A, NM_148904.4:c.380G>T, NM_148904.3:c.380G>A, NM_148904.3:c.380G>T, XM_006710320.4:c.623G>A, XM_006710320.4:c.623G>T, XM_006710320.3:c.623G>A, XM_006710320.3:c.623G>T, XM_006710320.2:c.623G>A, XM_006710320.2:c.623G>T, XM_006710320.1:c.623G>A, XM_006710320.1:c.623G>T, NM_148905.4:c.380G>A, NM_148905.4:c.380G>T, NM_148905.3:c.380G>A, NM_148905.3:c.380G>T, XM_011540599.3:c.983G>A, XM_011540599.3:c.983G>T, XM_011540599.2:c.983G>A, XM_011540599.2:c.983G>T, XM_011540599.1:c.983G>A, XM_011540599.1:c.983G>T, XM_011540600.3:c.953G>A, XM_011540600.3:c.953G>T, XM_011540600.2:c.953G>A, XM_011540600.2:c.953G>T, XM_011540600.1:c.953G>A, XM_011540600.1:c.953G>T, XM_011540601.3:c.914G>A, XM_011540601.3:c.914G>T, XM_011540601.2:c.914G>A, XM_011540601.2:c.914G>T, XM_011540601.1:c.914G>A, XM_011540601.1:c.914G>T, XM_006710318.3:c.884G>A, XM_006710318.3:c.884G>T, XM_006710318.2:c.884G>A, XM_006710318.2:c.884G>T, XM_006710318.1:c.884G>A, XM_006710318.1:c.884G>T, NM_148906.3:c.863G>A, NM_148906.3:c.863G>T, NM_148906.2:c.863G>A, NM_148906.2:c.863G>T, XM_006710321.3:c.593G>A, XM_006710321.3:c.593G>T, XM_006710321.2:c.593G>A, XM_006710321.2:c.593G>T, XM_006710321.1:c.593G>A, XM_006710321.1:c.593G>T, NM_148907.3:c.584G>A, NM_148907.3:c.584G>T, NM_148907.2:c.584G>A, NM_148907.2:c.584G>T, XM_011540604.3:c.419G>A, XM_011540604.3:c.419G>T, XM_011540604.2:c.419G>A, XM_011540604.2:c.419G>T, XM_011540604.1:c.419G>A, XM_011540604.1:c.419G>T, XM_017000221.3:c.380G>A, XM_017000221.3:c.380G>T, XM_017000221.2:c.380G>A, XM_017000221.2:c.380G>T, XM_017000221.1:c.380G>A, XM_017000221.1:c.380G>T, NM_001350208.2:c.356G>A, NM_001350208.2:c.356G>T, NM_001350208.1:c.356G>A, NM_001350208.1:c.356G>T, NM_001350209.2:c.356G>A, NM_001350209.2:c.356G>T, NM_001350209.1:c.356G>A, NM_001350209.1:c.356G>T, NM_001350210.2:c.269G>A, NM_001350210.2:c.269G>T, NM_001350210.1:c.269G>A, NM_001350210.1:c.269G>T, NM_001330580.2:c.419G>A, NM_001330580.2:c.419G>T, NM_001330580.1:c.419G>A, NM_001330580.1:c.419G>T, XM_017000218.2:c.845G>A, XM_017000218.2:c.845G>T, XM_017000218.1:c.845G>A, XM_017000218.1:c.845G>T, NR_036662.2:n.854G>A, NR_036662.2:n.854G>T, NR_036662.1:n.1072G>A, NR_036662.1:n.1072G>T, XM_047443908.1:c.419G>A, XM_047443908.1:c.419G>T, XM_047443893.1:c.791G>A, XM_047443893.1:c.791G>T, XM_047443896.1:c.752G>A, XM_047443896.1:c.752G>T, XM_047443906.1:c.419G>A, XM_047443906.1:c.419G>T, XM_047443899.1:c.554G>A, XM_047443899.1:c.554G>T, XM_047443916.1:c.983G>A, XM_047443916.1:c.983G>T, NP_078862.4:p.Gly305Asp, NP_078862.4:p.Gly305Val, NP_683707.3:p.Gly315Asp, NP_683707.3:p.Gly315Val, NP_683706.3:p.Gly292Asp, NP_683706.3:p.Gly292Val, NP_683702.1:p.Gly127Asp, NP_683702.1:p.Gly127Val, XP_006710383.1:p.Gly208Asp, XP_006710383.1:p.Gly208Val, NP_683703.1:p.Gly127Asp, NP_683703.1:p.Gly127Val, XP_011538901.1:p.Gly328Asp, XP_011538901.1:p.Gly328Val, XP_011538902.1:p.Gly318Asp, XP_011538902.1:p.Gly318Val, XP_011538903.1:p.Gly305Asp, XP_011538903.1:p.Gly305Val, XP_006710381.1:p.Gly295Asp, XP_006710381.1:p.Gly295Val, NP_683704.2:p.Gly288Asp, NP_683704.2:p.Gly288Val, XP_006710384.1:p.Gly198Asp, XP_006710384.1:p.Gly198Val, NP_683705.1:p.Gly195Asp, NP_683705.1:p.Gly195Val, XP_011538906.1:p.Gly140Asp, XP_011538906.1:p.Gly140Val, XP_016855710.1:p.Gly127Asp, XP_016855710.1:p.Gly127Val, NP_001337137.1:p.Gly119Asp, NP_001337137.1:p.Gly119Val, NP_001337138.1:p.Gly119Asp, NP_001337138.1:p.Gly119Val, NP_001337139.1:p.Gly90Asp, NP_001337139.1:p.Gly90Val, NP_001317509.1:p.Gly140Asp, NP_001317509.1:p.Gly140Val, XP_016855707.1:p.Gly282Asp, XP_016855707.1:p.Gly282Val, XP_047299864.1:p.Gly140Asp, XP_047299864.1:p.Gly140Val, XP_047299849.1:p.Gly264Asp, XP_047299849.1:p.Gly264Val, XP_047299852.1:p.Gly251Asp, XP_047299852.1:p.Gly251Val, XP_047299862.1:p.Gly140Asp, XP_047299862.1:p.Gly140Val, XP_047299855.1:p.Gly185Asp, XP_047299855.1:p.Gly185Val, XP_047299872.1:p.Gly328Asp, XP_047299872.1:p.Gly328Val

                  9.

                  rs1460671759 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:51776849 (GRCh38)
                    1:52242521 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:51776848:T:G
                    Gene:
                    OSBPL9 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.51776849T>G, NC_000001.10:g.52242521T>G, NM_024586.6:c.1187T>G, NM_024586.5:c.1187T>G, NM_148909.4:c.1217T>G, NM_148909.3:c.1217T>G, NM_148908.4:c.1148T>G, NM_148908.3:c.1148T>G, NM_148904.4:c.653T>G, NM_148904.3:c.653T>G, XM_006710320.4:c.896T>G, XM_006710320.3:c.896T>G, XM_006710320.2:c.896T>G, XM_006710320.1:c.896T>G, NM_148905.4:c.653T>G, NM_148905.3:c.653T>G, XM_011540599.3:c.1256T>G, XM_011540599.2:c.1256T>G, XM_011540599.1:c.1256T>G, XM_011540600.3:c.1226T>G, XM_011540600.2:c.1226T>G, XM_011540600.1:c.1226T>G, XM_011540601.3:c.1187T>G, XM_011540601.2:c.1187T>G, XM_011540601.1:c.1187T>G, XM_006710318.3:c.1157T>G, XM_006710318.2:c.1157T>G, XM_006710318.1:c.1157T>G, NM_148906.3:c.1136T>G, NM_148906.2:c.1136T>G, XM_006710321.3:c.866T>G, XM_006710321.2:c.866T>G, XM_006710321.1:c.866T>G, NM_148907.3:c.857T>G, NM_148907.2:c.857T>G, XM_011540604.3:c.692T>G, XM_011540604.2:c.692T>G, XM_011540604.1:c.692T>G, XM_017000221.3:c.653T>G, XM_017000221.2:c.653T>G, XM_017000221.1:c.653T>G, NM_001350208.2:c.629T>G, NM_001350208.1:c.629T>G, NM_001350209.2:c.629T>G, NM_001350209.1:c.629T>G, NM_001350210.2:c.542T>G, NM_001350210.1:c.542T>G, NM_001330580.2:c.692T>G, NM_001330580.1:c.692T>G, XM_017000218.2:c.1118T>G, XM_017000218.1:c.1118T>G, NR_036662.2:n.1127T>G, NR_036662.1:n.1345T>G, XM_047443908.1:c.692T>G, XM_047443893.1:c.1064T>G, XM_047443896.1:c.1025T>G, XM_047443906.1:c.692T>G, XM_047443899.1:c.827T>G, NP_078862.4:p.Phe396Cys, NP_683707.3:p.Phe406Cys, NP_683706.3:p.Phe383Cys, NP_683702.1:p.Phe218Cys, XP_006710383.1:p.Phe299Cys, NP_683703.1:p.Phe218Cys, XP_011538901.1:p.Phe419Cys, XP_011538902.1:p.Phe409Cys, XP_011538903.1:p.Phe396Cys, XP_006710381.1:p.Phe386Cys, NP_683704.2:p.Phe379Cys, XP_006710384.1:p.Phe289Cys, NP_683705.1:p.Phe286Cys, XP_011538906.1:p.Phe231Cys, XP_016855710.1:p.Phe218Cys, NP_001337137.1:p.Phe210Cys, NP_001337138.1:p.Phe210Cys, NP_001337139.1:p.Phe181Cys, NP_001317509.1:p.Phe231Cys, XP_016855707.1:p.Phe373Cys, XP_047299864.1:p.Phe231Cys, XP_047299849.1:p.Phe355Cys, XP_047299852.1:p.Phe342Cys, XP_047299862.1:p.Phe231Cys, XP_047299855.1:p.Phe276Cys

                    10.

                    rs1459099926 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      1:51787440 (GRCh38)
                      1:52253112 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:51787439:A:T
                      Gene:
                      OSBPL9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by cluster
                      HGVS:
                      NC_000001.11:g.51787440A>T, NC_000001.10:g.52253112A>T, NG_029171.2:g.96498T>A, NM_024586.6:c.2088A>T, NM_024586.5:c.2088A>T, NM_148909.4:c.2118A>T, NM_148909.3:c.2118A>T, NM_148908.4:c.2049A>T, NM_148908.3:c.2049A>T, NM_148904.4:c.1554A>T, NM_148904.3:c.1554A>T, XM_006710320.4:c.1797A>T, XM_006710320.3:c.1797A>T, XM_006710320.2:c.1797A>T, XM_006710320.1:c.1797A>T, NM_148905.4:c.1554A>T, NM_148905.3:c.1554A>T, XM_011540599.3:c.2157A>T, XM_011540599.2:c.2157A>T, XM_011540599.1:c.2157A>T, XM_011540600.3:c.2127A>T, XM_011540600.2:c.2127A>T, XM_011540600.1:c.2127A>T, XM_011540601.3:c.2088A>T, XM_011540601.2:c.2088A>T, XM_011540601.1:c.2088A>T, XM_006710318.3:c.2058A>T, XM_006710318.2:c.2058A>T, XM_006710318.1:c.2058A>T, NM_148906.3:c.2037A>T, NM_148906.2:c.2037A>T, XM_006710321.3:c.1767A>T, XM_006710321.2:c.1767A>T, XM_006710321.1:c.1767A>T, NM_148907.3:c.1758A>T, NM_148907.2:c.1758A>T, XM_011540604.3:c.1593A>T, XM_011540604.2:c.1593A>T, XM_011540604.1:c.1593A>T, XM_017000221.3:c.1554A>T, XM_017000221.2:c.1554A>T, XM_017000221.1:c.1554A>T, NM_001350208.2:c.1530A>T, NM_001350208.1:c.1530A>T, NM_001350209.2:c.1530A>T, NM_001350209.1:c.1530A>T, NM_001350210.2:c.1443A>T, NM_001350210.1:c.1443A>T, NM_001330580.2:c.1593A>T, NM_001330580.1:c.1593A>T, XM_017000218.2:c.2019A>T, XM_017000218.1:c.2019A>T, NR_036662.2:n.2028A>T, NR_036662.1:n.2246A>T, XM_047443908.1:c.1593A>T, XM_047443893.1:c.1965A>T, XM_047443896.1:c.1926A>T, XM_047443906.1:c.1593A>T, XM_047443899.1:c.1728A>T, NP_078862.4:p.Arg696Ser, NP_683707.3:p.Arg706Ser, NP_683706.3:p.Arg683Ser, NP_683702.1:p.Arg518Ser, XP_006710383.1:p.Arg599Ser, NP_683703.1:p.Arg518Ser, XP_011538901.1:p.Arg719Ser, XP_011538902.1:p.Arg709Ser, XP_011538903.1:p.Arg696Ser, XP_006710381.1:p.Arg686Ser, NP_683704.2:p.Arg679Ser, XP_006710384.1:p.Arg589Ser, NP_683705.1:p.Arg586Ser, XP_011538906.1:p.Arg531Ser, XP_016855710.1:p.Arg518Ser, NP_001337137.1:p.Arg510Ser, NP_001337138.1:p.Arg510Ser, NP_001337139.1:p.Arg481Ser, NP_001317509.1:p.Arg531Ser, XP_016855707.1:p.Arg673Ser, XP_047299864.1:p.Arg531Ser, XP_047299849.1:p.Arg655Ser, XP_047299852.1:p.Arg642Ser, XP_047299862.1:p.Arg531Ser, XP_047299855.1:p.Arg576Ser

                      11.

                      rs1452646876 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        1:51783964 (GRCh38)
                        1:52249636 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:51783963:T:G
                        Gene:
                        OSBPL9 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.00009/4 (ALFA)
                        G=0.000012/3 (GnomAD_exomes)
                        G=0.000014/2 (GnomAD)
                        G=0.000023/6 (TOPMED)
                        HGVS:
                        NC_000001.11:g.51783964T>G, NC_000001.10:g.52249636T>G, NM_024586.6:c.1563T>G, NM_024586.5:c.1563T>G, NM_148909.4:c.1593T>G, NM_148909.3:c.1593T>G, NM_148908.4:c.1524T>G, NM_148908.3:c.1524T>G, NM_148904.4:c.1029T>G, NM_148904.3:c.1029T>G, XM_006710320.4:c.1272T>G, XM_006710320.3:c.1272T>G, XM_006710320.2:c.1272T>G, XM_006710320.1:c.1272T>G, NM_148905.4:c.1029T>G, NM_148905.3:c.1029T>G, XM_011540599.3:c.1632T>G, XM_011540599.2:c.1632T>G, XM_011540599.1:c.1632T>G, XM_011540600.3:c.1602T>G, XM_011540600.2:c.1602T>G, XM_011540600.1:c.1602T>G, XM_011540601.3:c.1563T>G, XM_011540601.2:c.1563T>G, XM_011540601.1:c.1563T>G, XM_006710318.3:c.1533T>G, XM_006710318.2:c.1533T>G, XM_006710318.1:c.1533T>G, NM_148906.3:c.1512T>G, NM_148906.2:c.1512T>G, XM_006710321.3:c.1242T>G, XM_006710321.2:c.1242T>G, XM_006710321.1:c.1242T>G, NM_148907.3:c.1233T>G, NM_148907.2:c.1233T>G, XM_011540604.3:c.1068T>G, XM_011540604.2:c.1068T>G, XM_011540604.1:c.1068T>G, XM_017000221.3:c.1029T>G, XM_017000221.2:c.1029T>G, XM_017000221.1:c.1029T>G, NM_001350208.2:c.1005T>G, NM_001350208.1:c.1005T>G, NM_001350209.2:c.1005T>G, NM_001350209.1:c.1005T>G, NM_001350210.2:c.918T>G, NM_001350210.1:c.918T>G, NM_001330580.2:c.1068T>G, NM_001330580.1:c.1068T>G, XM_017000218.2:c.1494T>G, XM_017000218.1:c.1494T>G, NR_036662.2:n.1503T>G, NR_036662.1:n.1721T>G, XM_047443908.1:c.1068T>G, XM_047443893.1:c.1440T>G, XM_047443896.1:c.1401T>G, XM_047443906.1:c.1068T>G, XM_047443899.1:c.1203T>G

                        12.

                        rs1451593272 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:51787406 (GRCh38)
                          1:52253078 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:51787405:C:A
                          Gene:
                          OSBPL9 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000001.11:g.51787406C>A, NC_000001.10:g.52253078C>A, NG_029171.2:g.96532G>T, NM_024586.6:c.2054C>A, NM_024586.5:c.2054C>A, NM_148909.4:c.2084C>A, NM_148909.3:c.2084C>A, NM_148908.4:c.2015C>A, NM_148908.3:c.2015C>A, NM_148904.4:c.1520C>A, NM_148904.3:c.1520C>A, XM_006710320.4:c.1763C>A, XM_006710320.3:c.1763C>A, XM_006710320.2:c.1763C>A, XM_006710320.1:c.1763C>A, NM_148905.4:c.1520C>A, NM_148905.3:c.1520C>A, XM_011540599.3:c.2123C>A, XM_011540599.2:c.2123C>A, XM_011540599.1:c.2123C>A, XM_011540600.3:c.2093C>A, XM_011540600.2:c.2093C>A, XM_011540600.1:c.2093C>A, XM_011540601.3:c.2054C>A, XM_011540601.2:c.2054C>A, XM_011540601.1:c.2054C>A, XM_006710318.3:c.2024C>A, XM_006710318.2:c.2024C>A, XM_006710318.1:c.2024C>A, NM_148906.3:c.2003C>A, NM_148906.2:c.2003C>A, XM_006710321.3:c.1733C>A, XM_006710321.2:c.1733C>A, XM_006710321.1:c.1733C>A, NM_148907.3:c.1724C>A, NM_148907.2:c.1724C>A, XM_011540604.3:c.1559C>A, XM_011540604.2:c.1559C>A, XM_011540604.1:c.1559C>A, XM_017000221.3:c.1520C>A, XM_017000221.2:c.1520C>A, XM_017000221.1:c.1520C>A, NM_001350208.2:c.1496C>A, NM_001350208.1:c.1496C>A, NM_001350209.2:c.1496C>A, NM_001350209.1:c.1496C>A, NM_001350210.2:c.1409C>A, NM_001350210.1:c.1409C>A, NM_001330580.2:c.1559C>A, NM_001330580.1:c.1559C>A, XM_017000218.2:c.1985C>A, XM_017000218.1:c.1985C>A, NR_036662.2:n.1994C>A, NR_036662.1:n.2212C>A, XM_047443908.1:c.1559C>A, XM_047443893.1:c.1931C>A, XM_047443896.1:c.1892C>A, XM_047443906.1:c.1559C>A, XM_047443899.1:c.1694C>A, NP_078862.4:p.Thr685Asn, NP_683707.3:p.Thr695Asn, NP_683706.3:p.Thr672Asn, NP_683702.1:p.Thr507Asn, XP_006710383.1:p.Thr588Asn, NP_683703.1:p.Thr507Asn, XP_011538901.1:p.Thr708Asn, XP_011538902.1:p.Thr698Asn, XP_011538903.1:p.Thr685Asn, XP_006710381.1:p.Thr675Asn, NP_683704.2:p.Thr668Asn, XP_006710384.1:p.Thr578Asn, NP_683705.1:p.Thr575Asn, XP_011538906.1:p.Thr520Asn, XP_016855710.1:p.Thr507Asn, NP_001337137.1:p.Thr499Asn, NP_001337138.1:p.Thr499Asn, NP_001337139.1:p.Thr470Asn, NP_001317509.1:p.Thr520Asn, XP_016855707.1:p.Thr662Asn, XP_047299864.1:p.Thr520Asn, XP_047299849.1:p.Thr644Asn, XP_047299852.1:p.Thr631Asn, XP_047299862.1:p.Thr520Asn, XP_047299855.1:p.Thr565Asn

                          13.

                          rs1447961869 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:51765824 (GRCh38)
                            1:52231496 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:51765823:A:G
                            Gene:
                            OSBPL9 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.51765824A>G, NC_000001.10:g.52231496A>G, NM_024586.6:c.781A>G, NM_024586.5:c.781A>G, NM_148909.4:c.811A>G, NM_148909.3:c.811A>G, NM_148908.4:c.742A>G, NM_148908.3:c.742A>G, NM_148904.4:c.247A>G, NM_148904.3:c.247A>G, XM_006710320.4:c.490A>G, XM_006710320.3:c.490A>G, XM_006710320.2:c.490A>G, XM_006710320.1:c.490A>G, NM_148905.4:c.247A>G, NM_148905.3:c.247A>G, XM_011540599.3:c.850A>G, XM_011540599.2:c.850A>G, XM_011540599.1:c.850A>G, XM_011540600.3:c.820A>G, XM_011540600.2:c.820A>G, XM_011540600.1:c.820A>G, XM_011540601.3:c.781A>G, XM_011540601.2:c.781A>G, XM_011540601.1:c.781A>G, XM_006710318.3:c.751A>G, XM_006710318.2:c.751A>G, XM_006710318.1:c.751A>G, NM_148906.3:c.730A>G, NM_148906.2:c.730A>G, XM_006710321.3:c.460A>G, XM_006710321.2:c.460A>G, XM_006710321.1:c.460A>G, NM_148907.3:c.451A>G, NM_148907.2:c.451A>G, XM_011540604.3:c.286A>G, XM_011540604.2:c.286A>G, XM_011540604.1:c.286A>G, XM_017000221.3:c.247A>G, XM_017000221.2:c.247A>G, XM_017000221.1:c.247A>G, NM_001350208.2:c.223A>G, NM_001350208.1:c.223A>G, NM_001350209.2:c.223A>G, NM_001350209.1:c.223A>G, NM_001350210.2:c.136A>G, NM_001350210.1:c.136A>G, NM_001330580.2:c.286A>G, NM_001330580.1:c.286A>G, XM_017000218.2:c.712A>G, XM_017000218.1:c.712A>G, NR_036662.2:n.721A>G, NR_036662.1:n.939A>G, XM_047443908.1:c.286A>G, XM_047443893.1:c.658A>G, XM_047443896.1:c.619A>G, XM_047443906.1:c.286A>G, XM_047443899.1:c.421A>G, XM_047443916.1:c.850A>G, NP_078862.4:p.Ser261Gly, NP_683707.3:p.Ser271Gly, NP_683706.3:p.Ser248Gly, NP_683702.1:p.Ser83Gly, XP_006710383.1:p.Ser164Gly, NP_683703.1:p.Ser83Gly, XP_011538901.1:p.Ser284Gly, XP_011538902.1:p.Ser274Gly, XP_011538903.1:p.Ser261Gly, XP_006710381.1:p.Ser251Gly, NP_683704.2:p.Ser244Gly, XP_006710384.1:p.Ser154Gly, NP_683705.1:p.Ser151Gly, XP_011538906.1:p.Ser96Gly, XP_016855710.1:p.Ser83Gly, NP_001337137.1:p.Ser75Gly, NP_001337138.1:p.Ser75Gly, NP_001337139.1:p.Ser46Gly, NP_001317509.1:p.Ser96Gly, XP_016855707.1:p.Ser238Gly, XP_047299864.1:p.Ser96Gly, XP_047299849.1:p.Ser220Gly, XP_047299852.1:p.Ser207Gly, XP_047299862.1:p.Ser96Gly, XP_047299855.1:p.Ser141Gly, XP_047299872.1:p.Ser284Gly

                            14.

                            rs1446310461 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:51781268 (GRCh38)
                              1:52246940 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:51781267:A:G
                              Gene:
                              OSBPL9 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000001.11:g.51781268A>G, NC_000001.10:g.52246940A>G, NM_024586.6:c.1361A>G, NM_024586.5:c.1361A>G, NM_148909.4:c.1391A>G, NM_148909.3:c.1391A>G, NM_148908.4:c.1322A>G, NM_148908.3:c.1322A>G, NM_148904.4:c.827A>G, NM_148904.3:c.827A>G, XM_006710320.4:c.1070A>G, XM_006710320.3:c.1070A>G, XM_006710320.2:c.1070A>G, XM_006710320.1:c.1070A>G, NM_148905.4:c.827A>G, NM_148905.3:c.827A>G, XM_011540599.3:c.1430A>G, XM_011540599.2:c.1430A>G, XM_011540599.1:c.1430A>G, XM_011540600.3:c.1400A>G, XM_011540600.2:c.1400A>G, XM_011540600.1:c.1400A>G, XM_011540601.3:c.1361A>G, XM_011540601.2:c.1361A>G, XM_011540601.1:c.1361A>G, XM_006710318.3:c.1331A>G, XM_006710318.2:c.1331A>G, XM_006710318.1:c.1331A>G, NM_148906.3:c.1310A>G, NM_148906.2:c.1310A>G, XM_006710321.3:c.1040A>G, XM_006710321.2:c.1040A>G, XM_006710321.1:c.1040A>G, NM_148907.3:c.1031A>G, NM_148907.2:c.1031A>G, XM_011540604.3:c.866A>G, XM_011540604.2:c.866A>G, XM_011540604.1:c.866A>G, XM_017000221.3:c.827A>G, XM_017000221.2:c.827A>G, XM_017000221.1:c.827A>G, NM_001350208.2:c.803A>G, NM_001350208.1:c.803A>G, NM_001350209.2:c.803A>G, NM_001350209.1:c.803A>G, NM_001350210.2:c.716A>G, NM_001350210.1:c.716A>G, NM_001330580.2:c.866A>G, NM_001330580.1:c.866A>G, XM_017000218.2:c.1292A>G, XM_017000218.1:c.1292A>G, NR_036662.2:n.1301A>G, NR_036662.1:n.1519A>G, XM_047443908.1:c.866A>G, XM_047443893.1:c.1238A>G, XM_047443896.1:c.1199A>G, XM_047443906.1:c.866A>G, XM_047443899.1:c.1001A>G, NP_078862.4:p.Tyr454Cys, NP_683707.3:p.Tyr464Cys, NP_683706.3:p.Tyr441Cys, NP_683702.1:p.Tyr276Cys, XP_006710383.1:p.Tyr357Cys, NP_683703.1:p.Tyr276Cys, XP_011538901.1:p.Tyr477Cys, XP_011538902.1:p.Tyr467Cys, XP_011538903.1:p.Tyr454Cys, XP_006710381.1:p.Tyr444Cys, NP_683704.2:p.Tyr437Cys, XP_006710384.1:p.Tyr347Cys, NP_683705.1:p.Tyr344Cys, XP_011538906.1:p.Tyr289Cys, XP_016855710.1:p.Tyr276Cys, NP_001337137.1:p.Tyr268Cys, NP_001337138.1:p.Tyr268Cys, NP_001337139.1:p.Tyr239Cys, NP_001317509.1:p.Tyr289Cys, XP_016855707.1:p.Tyr431Cys, XP_047299864.1:p.Tyr289Cys, XP_047299849.1:p.Tyr413Cys, XP_047299852.1:p.Tyr400Cys, XP_047299862.1:p.Tyr289Cys, XP_047299855.1:p.Tyr334Cys

                              15.

                              rs1445901778 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                1:51765841 (GRCh38)
                                1:52231513 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:51765840:G:A,NC_000001.11:51765840:G:T
                                Gene:
                                OSBPL9 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.51765841G>A, NC_000001.11:g.51765841G>T, NC_000001.10:g.52231513G>A, NC_000001.10:g.52231513G>T, NM_024586.6:c.798G>A, NM_024586.6:c.798G>T, NM_024586.5:c.798G>A, NM_024586.5:c.798G>T, NM_148909.4:c.828G>A, NM_148909.4:c.828G>T, NM_148909.3:c.828G>A, NM_148909.3:c.828G>T, NM_148908.4:c.759G>A, NM_148908.4:c.759G>T, NM_148908.3:c.759G>A, NM_148908.3:c.759G>T, NM_148904.4:c.264G>A, NM_148904.4:c.264G>T, NM_148904.3:c.264G>A, NM_148904.3:c.264G>T, XM_006710320.4:c.507G>A, XM_006710320.4:c.507G>T, XM_006710320.3:c.507G>A, XM_006710320.3:c.507G>T, XM_006710320.2:c.507G>A, XM_006710320.2:c.507G>T, XM_006710320.1:c.507G>A, XM_006710320.1:c.507G>T, NM_148905.4:c.264G>A, NM_148905.4:c.264G>T, NM_148905.3:c.264G>A, NM_148905.3:c.264G>T, XM_011540599.3:c.867G>A, XM_011540599.3:c.867G>T, XM_011540599.2:c.867G>A, XM_011540599.2:c.867G>T, XM_011540599.1:c.867G>A, XM_011540599.1:c.867G>T, XM_011540600.3:c.837G>A, XM_011540600.3:c.837G>T, XM_011540600.2:c.837G>A, XM_011540600.2:c.837G>T, XM_011540600.1:c.837G>A, XM_011540600.1:c.837G>T, XM_011540601.3:c.798G>A, XM_011540601.3:c.798G>T, XM_011540601.2:c.798G>A, XM_011540601.2:c.798G>T, XM_011540601.1:c.798G>A, XM_011540601.1:c.798G>T, XM_006710318.3:c.768G>A, XM_006710318.3:c.768G>T, XM_006710318.2:c.768G>A, XM_006710318.2:c.768G>T, XM_006710318.1:c.768G>A, XM_006710318.1:c.768G>T, NM_148906.3:c.747G>A, NM_148906.3:c.747G>T, NM_148906.2:c.747G>A, NM_148906.2:c.747G>T, XM_006710321.3:c.477G>A, XM_006710321.3:c.477G>T, XM_006710321.2:c.477G>A, XM_006710321.2:c.477G>T, XM_006710321.1:c.477G>A, XM_006710321.1:c.477G>T, NM_148907.3:c.468G>A, NM_148907.3:c.468G>T, NM_148907.2:c.468G>A, NM_148907.2:c.468G>T, XM_011540604.3:c.303G>A, XM_011540604.3:c.303G>T, XM_011540604.2:c.303G>A, XM_011540604.2:c.303G>T, XM_011540604.1:c.303G>A, XM_011540604.1:c.303G>T, XM_017000221.3:c.264G>A, XM_017000221.3:c.264G>T, XM_017000221.2:c.264G>A, XM_017000221.2:c.264G>T, XM_017000221.1:c.264G>A, XM_017000221.1:c.264G>T, NM_001350208.2:c.240G>A, NM_001350208.2:c.240G>T, NM_001350208.1:c.240G>A, NM_001350208.1:c.240G>T, NM_001350209.2:c.240G>A, NM_001350209.2:c.240G>T, NM_001350209.1:c.240G>A, NM_001350209.1:c.240G>T, NM_001350210.2:c.153G>A, NM_001350210.2:c.153G>T, NM_001350210.1:c.153G>A, NM_001350210.1:c.153G>T, NM_001330580.2:c.303G>A, NM_001330580.2:c.303G>T, NM_001330580.1:c.303G>A, NM_001330580.1:c.303G>T, XM_017000218.2:c.729G>A, XM_017000218.2:c.729G>T, XM_017000218.1:c.729G>A, XM_017000218.1:c.729G>T, NR_036662.2:n.738G>A, NR_036662.2:n.738G>T, NR_036662.1:n.956G>A, NR_036662.1:n.956G>T, XM_047443908.1:c.303G>A, XM_047443908.1:c.303G>T, XM_047443893.1:c.675G>A, XM_047443893.1:c.675G>T, XM_047443896.1:c.636G>A, XM_047443896.1:c.636G>T, XM_047443906.1:c.303G>A, XM_047443906.1:c.303G>T, XM_047443899.1:c.438G>A, XM_047443899.1:c.438G>T, XM_047443916.1:c.867G>A, XM_047443916.1:c.867G>T

                                16.

                                rs1444997869 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:51783991 (GRCh38)
                                  1:52249663 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:51783990:T:C
                                  Gene:
                                  OSBPL9 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000224/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000001.11:g.51783991T>C, NC_000001.10:g.52249663T>C, NM_024586.6:c.1590T>C, NM_024586.5:c.1590T>C, NM_148909.4:c.1620T>C, NM_148909.3:c.1620T>C, NM_148908.4:c.1551T>C, NM_148908.3:c.1551T>C, NM_148904.4:c.1056T>C, NM_148904.3:c.1056T>C, XM_006710320.4:c.1299T>C, XM_006710320.3:c.1299T>C, XM_006710320.2:c.1299T>C, XM_006710320.1:c.1299T>C, NM_148905.4:c.1056T>C, NM_148905.3:c.1056T>C, XM_011540599.3:c.1659T>C, XM_011540599.2:c.1659T>C, XM_011540599.1:c.1659T>C, XM_011540600.3:c.1629T>C, XM_011540600.2:c.1629T>C, XM_011540600.1:c.1629T>C, XM_011540601.3:c.1590T>C, XM_011540601.2:c.1590T>C, XM_011540601.1:c.1590T>C, XM_006710318.3:c.1560T>C, XM_006710318.2:c.1560T>C, XM_006710318.1:c.1560T>C, NM_148906.3:c.1539T>C, NM_148906.2:c.1539T>C, XM_006710321.3:c.1269T>C, XM_006710321.2:c.1269T>C, XM_006710321.1:c.1269T>C, NM_148907.3:c.1260T>C, NM_148907.2:c.1260T>C, XM_011540604.3:c.1095T>C, XM_011540604.2:c.1095T>C, XM_011540604.1:c.1095T>C, XM_017000221.3:c.1056T>C, XM_017000221.2:c.1056T>C, XM_017000221.1:c.1056T>C, NM_001350208.2:c.1032T>C, NM_001350208.1:c.1032T>C, NM_001350209.2:c.1032T>C, NM_001350209.1:c.1032T>C, NM_001350210.2:c.945T>C, NM_001350210.1:c.945T>C, NM_001330580.2:c.1095T>C, NM_001330580.1:c.1095T>C, XM_017000218.2:c.1521T>C, XM_017000218.1:c.1521T>C, NR_036662.2:n.1530T>C, NR_036662.1:n.1748T>C, XM_047443908.1:c.1095T>C, XM_047443893.1:c.1467T>C, XM_047443896.1:c.1428T>C, XM_047443906.1:c.1095T>C, XM_047443899.1:c.1230T>C

                                  17.

                                  rs1438464111 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:51781335 (GRCh38)
                                    1:52247007 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:51781334:A:G
                                    Gene:
                                    OSBPL9 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000142/2 (TOMMO)
                                    HGVS:
                                    NC_000001.11:g.51781335A>G, NC_000001.10:g.52247007A>G, NM_024586.6:c.1428A>G, NM_024586.5:c.1428A>G, NM_148909.4:c.1458A>G, NM_148909.3:c.1458A>G, NM_148908.4:c.1389A>G, NM_148908.3:c.1389A>G, NM_148904.4:c.894A>G, NM_148904.3:c.894A>G, XM_006710320.4:c.1137A>G, XM_006710320.3:c.1137A>G, XM_006710320.2:c.1137A>G, XM_006710320.1:c.1137A>G, NM_148905.4:c.894A>G, NM_148905.3:c.894A>G, XM_011540599.3:c.1497A>G, XM_011540599.2:c.1497A>G, XM_011540599.1:c.1497A>G, XM_011540600.3:c.1467A>G, XM_011540600.2:c.1467A>G, XM_011540600.1:c.1467A>G, XM_011540601.3:c.1428A>G, XM_011540601.2:c.1428A>G, XM_011540601.1:c.1428A>G, XM_006710318.3:c.1398A>G, XM_006710318.2:c.1398A>G, XM_006710318.1:c.1398A>G, NM_148906.3:c.1377A>G, NM_148906.2:c.1377A>G, XM_006710321.3:c.1107A>G, XM_006710321.2:c.1107A>G, XM_006710321.1:c.1107A>G, NM_148907.3:c.1098A>G, NM_148907.2:c.1098A>G, XM_011540604.3:c.933A>G, XM_011540604.2:c.933A>G, XM_011540604.1:c.933A>G, XM_017000221.3:c.894A>G, XM_017000221.2:c.894A>G, XM_017000221.1:c.894A>G, NM_001350208.2:c.870A>G, NM_001350208.1:c.870A>G, NM_001350209.2:c.870A>G, NM_001350209.1:c.870A>G, NM_001350210.2:c.783A>G, NM_001350210.1:c.783A>G, NM_001330580.2:c.933A>G, NM_001330580.1:c.933A>G, XM_017000218.2:c.1359A>G, XM_017000218.1:c.1359A>G, NR_036662.2:n.1368A>G, NR_036662.1:n.1586A>G, XM_047443908.1:c.933A>G, XM_047443893.1:c.1305A>G, XM_047443896.1:c.1266A>G, XM_047443906.1:c.933A>G, XM_047443899.1:c.1068A>G

                                    18.

                                    rs1435333770 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:51761949 (GRCh38)
                                      1:52227621 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:51761948:G:C
                                      Gene:
                                      OSBPL9 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.51761949G>C, NC_000001.10:g.52227621G>C, NM_024586.6:c.756G>C, NM_024586.5:c.756G>C, NM_148909.4:c.786G>C, NM_148909.3:c.786G>C, NM_148908.4:c.717G>C, NM_148908.3:c.717G>C, NM_148904.4:c.222G>C, NM_148904.3:c.222G>C, XM_006710320.4:c.465G>C, XM_006710320.3:c.465G>C, XM_006710320.2:c.465G>C, XM_006710320.1:c.465G>C, NM_148905.4:c.222G>C, NM_148905.3:c.222G>C, XM_011540599.3:c.825G>C, XM_011540599.2:c.825G>C, XM_011540599.1:c.825G>C, XM_011540600.3:c.795G>C, XM_011540600.2:c.795G>C, XM_011540600.1:c.795G>C, XM_011540601.3:c.756G>C, XM_011540601.2:c.756G>C, XM_011540601.1:c.756G>C, XM_006710318.3:c.726G>C, XM_006710318.2:c.726G>C, XM_006710318.1:c.726G>C, NM_148906.3:c.705G>C, NM_148906.2:c.705G>C, XM_006710321.3:c.435G>C, XM_006710321.2:c.435G>C, XM_006710321.1:c.435G>C, NM_148907.3:c.426G>C, NM_148907.2:c.426G>C, XM_011540604.3:c.261G>C, XM_011540604.2:c.261G>C, XM_011540604.1:c.261G>C, XM_017000221.3:c.222G>C, XM_017000221.2:c.222G>C, XM_017000221.1:c.222G>C, NM_001350208.2:c.198G>C, NM_001350208.1:c.198G>C, NM_001350209.2:c.198G>C, NM_001350209.1:c.198G>C, NM_001350210.2:c.111G>C, NM_001350210.1:c.111G>C, NM_001330580.2:c.261G>C, NM_001330580.1:c.261G>C, XM_017000218.2:c.687G>C, XM_017000218.1:c.687G>C, NR_036662.2:n.696G>C, NR_036662.1:n.914G>C, XM_047443908.1:c.261G>C, XM_047443893.1:c.633G>C, XM_047443896.1:c.594G>C, XM_047443906.1:c.261G>C, XM_047443899.1:c.396G>C, XM_047443916.1:c.825G>C, NP_078862.4:p.Gln252His, NP_683707.3:p.Gln262His, NP_683706.3:p.Gln239His, NP_683702.1:p.Gln74His, XP_006710383.1:p.Gln155His, NP_683703.1:p.Gln74His, XP_011538901.1:p.Gln275His, XP_011538902.1:p.Gln265His, XP_011538903.1:p.Gln252His, XP_006710381.1:p.Gln242His, NP_683704.2:p.Gln235His, XP_006710384.1:p.Gln145His, NP_683705.1:p.Gln142His, XP_011538906.1:p.Gln87His, XP_016855710.1:p.Gln74His, NP_001337137.1:p.Gln66His, NP_001337138.1:p.Gln66His, NP_001337139.1:p.Gln37His, NP_001317509.1:p.Gln87His, XP_016855707.1:p.Gln229His, XP_047299864.1:p.Gln87His, XP_047299849.1:p.Gln211His, XP_047299852.1:p.Gln198His, XP_047299862.1:p.Gln87His, XP_047299855.1:p.Gln132His, XP_047299872.1:p.Gln275His

                                      19.

                                      rs1434984551 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:51786545 (GRCh38)
                                        1:52252217 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:51786544:A:G
                                        Gene:
                                        OSBPL9 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.51786545A>G, NC_000001.10:g.52252217A>G, NM_024586.6:c.1928A>G, NM_024586.5:c.1928A>G, NM_148909.4:c.1958A>G, NM_148909.3:c.1958A>G, NM_148908.4:c.1889A>G, NM_148908.3:c.1889A>G, NM_148904.4:c.1394A>G, NM_148904.3:c.1394A>G, XM_006710320.4:c.1637A>G, XM_006710320.3:c.1637A>G, XM_006710320.2:c.1637A>G, XM_006710320.1:c.1637A>G, NM_148905.4:c.1394A>G, NM_148905.3:c.1394A>G, XM_011540599.3:c.1997A>G, XM_011540599.2:c.1997A>G, XM_011540599.1:c.1997A>G, XM_011540600.3:c.1967A>G, XM_011540600.2:c.1967A>G, XM_011540600.1:c.1967A>G, XM_011540601.3:c.1928A>G, XM_011540601.2:c.1928A>G, XM_011540601.1:c.1928A>G, XM_006710318.3:c.1898A>G, XM_006710318.2:c.1898A>G, XM_006710318.1:c.1898A>G, NM_148906.3:c.1877A>G, NM_148906.2:c.1877A>G, XM_006710321.3:c.1607A>G, XM_006710321.2:c.1607A>G, XM_006710321.1:c.1607A>G, NM_148907.3:c.1598A>G, NM_148907.2:c.1598A>G, XM_011540604.3:c.1433A>G, XM_011540604.2:c.1433A>G, XM_011540604.1:c.1433A>G, XM_017000221.3:c.1394A>G, XM_017000221.2:c.1394A>G, XM_017000221.1:c.1394A>G, NM_001350208.2:c.1370A>G, NM_001350208.1:c.1370A>G, NM_001350209.2:c.1370A>G, NM_001350209.1:c.1370A>G, NM_001350210.2:c.1283A>G, NM_001350210.1:c.1283A>G, NM_001330580.2:c.1433A>G, NM_001330580.1:c.1433A>G, XM_017000218.2:c.1859A>G, XM_017000218.1:c.1859A>G, NR_036662.2:n.1868A>G, NR_036662.1:n.2086A>G, XM_047443908.1:c.1433A>G, XM_047443893.1:c.1805A>G, XM_047443896.1:c.1766A>G, XM_047443906.1:c.1433A>G, XM_047443899.1:c.1568A>G, NP_078862.4:p.Asp643Gly, NP_683707.3:p.Asp653Gly, NP_683706.3:p.Asp630Gly, NP_683702.1:p.Asp465Gly, XP_006710383.1:p.Asp546Gly, NP_683703.1:p.Asp465Gly, XP_011538901.1:p.Asp666Gly, XP_011538902.1:p.Asp656Gly, XP_011538903.1:p.Asp643Gly, XP_006710381.1:p.Asp633Gly, NP_683704.2:p.Asp626Gly, XP_006710384.1:p.Asp536Gly, NP_683705.1:p.Asp533Gly, XP_011538906.1:p.Asp478Gly, XP_016855710.1:p.Asp465Gly, NP_001337137.1:p.Asp457Gly, NP_001337138.1:p.Asp457Gly, NP_001337139.1:p.Asp428Gly, NP_001317509.1:p.Asp478Gly, XP_016855707.1:p.Asp620Gly, XP_047299864.1:p.Asp478Gly, XP_047299849.1:p.Asp602Gly, XP_047299852.1:p.Asp589Gly, XP_047299862.1:p.Asp478Gly, XP_047299855.1:p.Asp523Gly

                                        20.

                                        rs1431594263 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:51772158 (GRCh38)
                                          1:52237830 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:51772157:T:C
                                          Gene:
                                          OSBPL9 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000034/9 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.51772158T>C, NC_000001.10:g.52237830T>C, NM_024586.6:c.1027T>C, NM_024586.5:c.1027T>C, NM_148909.4:c.1057T>C, NM_148909.3:c.1057T>C, NM_148908.4:c.988T>C, NM_148908.3:c.988T>C, NM_148904.4:c.493T>C, NM_148904.3:c.493T>C, XM_006710320.4:c.736T>C, XM_006710320.3:c.736T>C, XM_006710320.2:c.736T>C, XM_006710320.1:c.736T>C, NM_148905.4:c.493T>C, NM_148905.3:c.493T>C, XM_011540599.3:c.1096T>C, XM_011540599.2:c.1096T>C, XM_011540599.1:c.1096T>C, XM_011540600.3:c.1066T>C, XM_011540600.2:c.1066T>C, XM_011540600.1:c.1066T>C, XM_011540601.3:c.1027T>C, XM_011540601.2:c.1027T>C, XM_011540601.1:c.1027T>C, XM_006710318.3:c.997T>C, XM_006710318.2:c.997T>C, XM_006710318.1:c.997T>C, NM_148906.3:c.976T>C, NM_148906.2:c.976T>C, XM_006710321.3:c.706T>C, XM_006710321.2:c.706T>C, XM_006710321.1:c.706T>C, NM_148907.3:c.697T>C, NM_148907.2:c.697T>C, XM_011540604.3:c.532T>C, XM_011540604.2:c.532T>C, XM_011540604.1:c.532T>C, XM_017000221.3:c.493T>C, XM_017000221.2:c.493T>C, XM_017000221.1:c.493T>C, NM_001350208.2:c.469T>C, NM_001350208.1:c.469T>C, NM_001350209.2:c.469T>C, NM_001350209.1:c.469T>C, NM_001350210.2:c.382T>C, NM_001350210.1:c.382T>C, NM_001330580.2:c.532T>C, NM_001330580.1:c.532T>C, XM_017000218.2:c.958T>C, XM_017000218.1:c.958T>C, NR_036662.2:n.967T>C, NR_036662.1:n.1185T>C, XM_047443908.1:c.532T>C, XM_047443893.1:c.904T>C, XM_047443896.1:c.865T>C, XM_047443906.1:c.532T>C, XM_047443899.1:c.667T>C, XM_047443916.1:c.1096T>C

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