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1.

rs1491543005 has merged into rs112663252 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    19:58574425 (GRCh38)
    19:59085792 (GRCh37)
    Canonical SPDI:
    NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58574416:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    -=0.000023/6 (TOPMED)
    TTTT=0.053819/31 (NorthernSweden)
    HGVS:
    NC_000019.10:g.58574425_58574436del, NC_000019.10:g.58574427_58574436del, NC_000019.10:g.58574428_58574436del, NC_000019.10:g.58574429_58574436del, NC_000019.10:g.58574430_58574436del, NC_000019.10:g.58574431_58574436del, NC_000019.10:g.58574432_58574436del, NC_000019.10:g.58574433_58574436del, NC_000019.10:g.58574434_58574436del, NC_000019.10:g.58574435_58574436del, NC_000019.10:g.58574436del, NC_000019.10:g.58574436dup, NC_000019.10:g.58574435_58574436dup, NC_000019.10:g.58574434_58574436dup, NC_000019.10:g.58574433_58574436dup, NC_000019.10:g.58574432_58574436dup, NC_000019.10:g.58574431_58574436dup, NC_000019.10:g.58574430_58574436dup, NC_000019.10:g.58574429_58574436dup, NC_000019.10:g.58574428_58574436dup, NC_000019.10:g.58574427_58574436dup, NC_000019.10:g.58574425_58574436dup, NC_000019.10:g.58574424_58574436dup, NC_000019.10:g.58574423_58574436dup, NC_000019.10:g.58574422_58574436dup, NC_000019.10:g.58574421_58574436dup, NC_000019.10:g.58574436_58574437insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.59085792_59085803del, NC_000019.9:g.59085794_59085803del, NC_000019.9:g.59085795_59085803del, NC_000019.9:g.59085796_59085803del, NC_000019.9:g.59085797_59085803del, NC_000019.9:g.59085798_59085803del, NC_000019.9:g.59085799_59085803del, NC_000019.9:g.59085800_59085803del, NC_000019.9:g.59085801_59085803del, NC_000019.9:g.59085802_59085803del, NC_000019.9:g.59085803del, NC_000019.9:g.59085803dup, NC_000019.9:g.59085802_59085803dup, NC_000019.9:g.59085801_59085803dup, NC_000019.9:g.59085800_59085803dup, NC_000019.9:g.59085799_59085803dup, NC_000019.9:g.59085798_59085803dup, NC_000019.9:g.59085797_59085803dup, NC_000019.9:g.59085796_59085803dup, NC_000019.9:g.59085795_59085803dup, NC_000019.9:g.59085794_59085803dup, NC_000019.9:g.59085792_59085803dup, NC_000019.9:g.59085791_59085803dup, NC_000019.9:g.59085790_59085803dup, NC_000019.9:g.59085789_59085803dup, NC_000019.9:g.59085788_59085803dup, NC_000019.9:g.59085803_59085804insTTTTTTTTTTTTTTTTTTTTTTTT, NR_027334.2:n.2234_2245del, NR_027334.2:n.2236_2245del, NR_027334.2:n.2237_2245del, NR_027334.2:n.2238_2245del, NR_027334.2:n.2239_2245del, NR_027334.2:n.2240_2245del, NR_027334.2:n.2241_2245del, NR_027334.2:n.2242_2245del, NR_027334.2:n.2243_2245del, NR_027334.2:n.2244_2245del, NR_027334.2:n.2245del, NR_027334.2:n.2245dup, NR_027334.2:n.2244_2245dup, NR_027334.2:n.2243_2245dup, NR_027334.2:n.2242_2245dup, NR_027334.2:n.2241_2245dup, NR_027334.2:n.2240_2245dup, NR_027334.2:n.2239_2245dup, NR_027334.2:n.2238_2245dup, NR_027334.2:n.2237_2245dup, NR_027334.2:n.2236_2245dup, NR_027334.2:n.2234_2245dup, NR_027334.2:n.2233_2245dup, NR_027334.2:n.2232_2245dup, NR_027334.2:n.2231_2245dup, NR_027334.2:n.2230_2245dup, NR_027334.2:n.2245_2246insTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491451407 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      19:58575177 (GRCh38)
      19:59086545 (GRCh37)
      Canonical SPDI:
      NC_000019.10:58575177::G
      Gene:
      MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000012/1 (GnomAD)
      HGVS:

      3.

      rs1491434551 has merged into rs767668303 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>-,GG [Show Flanks]
        Chromosome:
        19:58571097 (GRCh38)
        19:59082464 (GRCh37)
        Canonical SPDI:
        NC_000019.10:58571096:GGGGG:GGGG,NC_000019.10:58571096:GGGGG:GGGGGG
        Gene:
        MZF1 (Varview), MZF1-AS1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGG=0.000051/1 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000009/1 (ExAC)
        HGVS:
        NC_000019.10:g.58571101del, NC_000019.10:g.58571101dup, NC_000019.9:g.59082468del, NC_000019.9:g.59082468dup, XM_005259204.4:c.416del, XM_005259204.4:c.416dup, XM_005259204.3:c.416del, XM_005259204.3:c.416dup, XM_005259204.2:c.416del, XM_005259204.2:c.416dup, XM_005259204.1:c.416del, XM_005259204.1:c.416dup, XM_011527264.4:c.383del, XM_011527264.4:c.383dup, XM_011527264.3:c.383del, XM_011527264.3:c.383dup, XM_011527264.2:c.383del, XM_011527264.2:c.383dup, XM_011527264.1:c.383del, XM_011527264.1:c.383dup, NM_003422.3:c.293del, NM_003422.3:c.293dup, NM_003422.2:c.293del, NM_003422.2:c.293dup, NM_198055.2:c.293del, NM_198055.2:c.293dup, NM_198055.1:c.293del, NM_198055.1:c.293dup, NM_001267033.2:c.293del, NM_001267033.2:c.293dup, NM_001267033.1:c.293del, NM_001267033.1:c.293dup, XM_047439312.1:c.416del, XM_047439312.1:c.416dup, XM_047439313.1:c.416del, XM_047439313.1:c.416dup, XP_005259261.1:p.Pro139fs, XP_005259261.1:p.Pro139_Glu140insTer, XP_011525566.1:p.Pro128fs, XP_011525566.1:p.Pro128_Glu129insTer, NP_003413.2:p.Pro98fs, NP_003413.2:p.Pro98_Glu99insTer, NP_932172.1:p.Pro98fs, NP_932172.1:p.Pro98_Glu99insTer, NP_001253962.1:p.Pro98fs, NP_001253962.1:p.Pro98_Glu99insTer, XP_047295268.1:p.Pro139fs, XP_047295268.1:p.Pro139_Glu140insTer, XP_047295269.1:p.Pro139fs, XP_047295269.1:p.Pro139_Glu140insTer

        4.

        rs1491272668 has merged into rs71190056 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          19:58564914 (GRCh38)
          19:59076281 (GRCh37)
          Canonical SPDI:
          NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58564902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          MZF1 (Varview), MZF1-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000019.10:g.58564914_58564938del, NC_000019.10:g.58564915_58564938del, NC_000019.10:g.58564916_58564938del, NC_000019.10:g.58564917_58564938del, NC_000019.10:g.58564918_58564938del, NC_000019.10:g.58564919_58564938del, NC_000019.10:g.58564920_58564938del, NC_000019.10:g.58564921_58564938del, NC_000019.10:g.58564922_58564938del, NC_000019.10:g.58564923_58564938del, NC_000019.10:g.58564924_58564938del, NC_000019.10:g.58564925_58564938del, NC_000019.10:g.58564926_58564938del, NC_000019.10:g.58564927_58564938del, NC_000019.10:g.58564928_58564938del, NC_000019.10:g.58564929_58564938del, NC_000019.10:g.58564930_58564938del, NC_000019.10:g.58564931_58564938del, NC_000019.10:g.58564932_58564938del, NC_000019.10:g.58564933_58564938del, NC_000019.10:g.58564934_58564938del, NC_000019.10:g.58564935_58564938del, NC_000019.10:g.58564936_58564938del, NC_000019.10:g.58564937_58564938del, NC_000019.10:g.58564938del, NC_000019.10:g.58564938dup, NC_000019.10:g.58564937_58564938dup, NC_000019.10:g.58564936_58564938dup, NC_000019.10:g.58564935_58564938dup, NC_000019.10:g.58564934_58564938dup, NC_000019.10:g.58564933_58564938dup, NC_000019.10:g.58564932_58564938dup, NC_000019.10:g.58564931_58564938dup, NC_000019.10:g.58564930_58564938dup, NC_000019.10:g.58564929_58564938dup, NC_000019.10:g.58564928_58564938dup, NC_000019.10:g.58564927_58564938dup, NC_000019.10:g.58564926_58564938dup, NC_000019.10:g.58564925_58564938dup, NC_000019.10:g.58564924_58564938dup, NC_000019.10:g.58564923_58564938dup, NC_000019.10:g.58564921_58564938dup, NC_000019.10:g.58564920_58564938dup, NC_000019.10:g.58564919_58564938dup, NC_000019.10:g.58564918_58564938dup, NC_000019.10:g.58564916_58564938dup, NC_000019.10:g.58564915_58564938dup, NC_000019.9:g.59076281_59076305del, NC_000019.9:g.59076282_59076305del, NC_000019.9:g.59076283_59076305del, NC_000019.9:g.59076284_59076305del, NC_000019.9:g.59076285_59076305del, NC_000019.9:g.59076286_59076305del, NC_000019.9:g.59076287_59076305del, NC_000019.9:g.59076288_59076305del, NC_000019.9:g.59076289_59076305del, NC_000019.9:g.59076290_59076305del, NC_000019.9:g.59076291_59076305del, NC_000019.9:g.59076292_59076305del, NC_000019.9:g.59076293_59076305del, NC_000019.9:g.59076294_59076305del, NC_000019.9:g.59076295_59076305del, NC_000019.9:g.59076296_59076305del, NC_000019.9:g.59076297_59076305del, NC_000019.9:g.59076298_59076305del, NC_000019.9:g.59076299_59076305del, NC_000019.9:g.59076300_59076305del, NC_000019.9:g.59076301_59076305del, NC_000019.9:g.59076302_59076305del, NC_000019.9:g.59076303_59076305del, NC_000019.9:g.59076304_59076305del, NC_000019.9:g.59076305del, NC_000019.9:g.59076305dup, NC_000019.9:g.59076304_59076305dup, NC_000019.9:g.59076303_59076305dup, NC_000019.9:g.59076302_59076305dup, NC_000019.9:g.59076301_59076305dup, NC_000019.9:g.59076300_59076305dup, NC_000019.9:g.59076299_59076305dup, NC_000019.9:g.59076298_59076305dup, NC_000019.9:g.59076297_59076305dup, NC_000019.9:g.59076296_59076305dup, NC_000019.9:g.59076295_59076305dup, NC_000019.9:g.59076294_59076305dup, NC_000019.9:g.59076293_59076305dup, NC_000019.9:g.59076292_59076305dup, NC_000019.9:g.59076291_59076305dup, NC_000019.9:g.59076290_59076305dup, NC_000019.9:g.59076288_59076305dup, NC_000019.9:g.59076287_59076305dup, NC_000019.9:g.59076286_59076305dup, NC_000019.9:g.59076285_59076305dup, NC_000019.9:g.59076283_59076305dup, NC_000019.9:g.59076282_59076305dup

          5.

          rs1491174026 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G,GG,GTG,GTTTTTTTTG [Show Flanks]
            Chromosome:
            19:58564903 (GRCh38)
            19:59076271 (GRCh37)
            Canonical SPDI:
            NC_000019.10:58564903::G,NC_000019.10:58564903::GG,NC_000019.10:58564903::GTG,NC_000019.10:58564903::GTTTTTTTTG
            Gene:
            MZF1 (Varview), MZF1-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GG=0./0 (ALFA)
            G=0.00043/5 (TOMMO)
            HGVS:

            6.

            rs1491158079 has merged into rs1169301974 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              19:58575190 (GRCh38)
              19:59086557 (GRCh37)
              Canonical SPDI:
              NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58575176:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000019.10:g.58575190_58575203del, NC_000019.10:g.58575192_58575203del, NC_000019.10:g.58575193_58575203del, NC_000019.10:g.58575194_58575203del, NC_000019.10:g.58575195_58575203del, NC_000019.10:g.58575196_58575203del, NC_000019.10:g.58575197_58575203del, NC_000019.10:g.58575198_58575203del, NC_000019.10:g.58575199_58575203del, NC_000019.10:g.58575200_58575203del, NC_000019.10:g.58575201_58575203del, NC_000019.10:g.58575202_58575203del, NC_000019.10:g.58575203del, NC_000019.10:g.58575203dup, NC_000019.10:g.58575202_58575203dup, NC_000019.10:g.58575201_58575203dup, NC_000019.10:g.58575200_58575203dup, NC_000019.10:g.58575199_58575203dup, NC_000019.10:g.58575198_58575203dup, NC_000019.10:g.58575197_58575203dup, NC_000019.10:g.58575196_58575203dup, NC_000019.10:g.58575195_58575203dup, NC_000019.10:g.58575194_58575203dup, NC_000019.10:g.58575193_58575203dup, NC_000019.10:g.58575192_58575203dup, NC_000019.10:g.58575190_58575203dup, NC_000019.9:g.59086557_59086570del, NC_000019.9:g.59086559_59086570del, NC_000019.9:g.59086560_59086570del, NC_000019.9:g.59086561_59086570del, NC_000019.9:g.59086562_59086570del, NC_000019.9:g.59086563_59086570del, NC_000019.9:g.59086564_59086570del, NC_000019.9:g.59086565_59086570del, NC_000019.9:g.59086566_59086570del, NC_000019.9:g.59086567_59086570del, NC_000019.9:g.59086568_59086570del, NC_000019.9:g.59086569_59086570del, NC_000019.9:g.59086570del, NC_000019.9:g.59086570dup, NC_000019.9:g.59086569_59086570dup, NC_000019.9:g.59086568_59086570dup, NC_000019.9:g.59086567_59086570dup, NC_000019.9:g.59086566_59086570dup, NC_000019.9:g.59086565_59086570dup, NC_000019.9:g.59086564_59086570dup, NC_000019.9:g.59086563_59086570dup, NC_000019.9:g.59086562_59086570dup, NC_000019.9:g.59086561_59086570dup, NC_000019.9:g.59086560_59086570dup, NC_000019.9:g.59086559_59086570dup, NC_000019.9:g.59086557_59086570dup

              7.

              rs1491047225 has merged into rs55976513 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
                Chromosome:
                19:58565108 (GRCh38)
                19:59076475 (GRCh37)
                Canonical SPDI:
                NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58565096:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                MZF1 (Varview), MZF1-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTTT=0./0 (ALFA)
                -=0.2/8 (GENOME_DK)
                -=0.275/165 (NorthernSweden)
                -=0.36144/1393 (ALSPAC)
                -=0.36354/1348 (TWINSUK)
                -=0.43229/2011 (1000Genomes)
                HGVS:

                8.

                rs1490987344 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:58569084 (GRCh38)
                  19:59080451 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:58569083:T:C
                  Gene:
                  MZF1 (Varview), MZF1-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1490977836 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:58565862 (GRCh38)
                    19:59077229 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:58565861:T:C
                    Gene:
                    MZF1 (Varview), MZF1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000122/2 (ALFA)
                    C=0.000115/15 (GnomAD)
                    C=0.000468/3 (1000Genomes)
                    HGVS:

                    10.

                    rs1490659564 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:58571048 (GRCh38)
                      19:59082415 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:58571047:C:T
                      Gene:
                      MZF1 (Varview), MZF1-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1490564825 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        19:58563113 (GRCh38)
                        19:59074480 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:58563112:C:G,NC_000019.10:58563112:C:T
                        Gene:
                        MZF1 (Varview), MZF1-AS1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000019.10:g.58563113C>G, NC_000019.10:g.58563113C>T, NC_000019.9:g.59074480C>G, NC_000019.9:g.59074480C>T, XM_005259204.4:c.1287G>C, XM_005259204.4:c.1287G>A, XM_005259204.3:c.1287G>C, XM_005259204.3:c.1287G>A, XM_005259204.2:c.1287G>C, XM_005259204.2:c.1287G>A, XM_005259204.1:c.1287G>C, XM_005259204.1:c.1287G>A, XM_011527264.4:c.1254G>C, XM_011527264.4:c.1254G>A, XM_011527264.3:c.1254G>C, XM_011527264.3:c.1254G>A, XM_011527264.2:c.1254G>C, XM_011527264.2:c.1254G>A, XM_011527264.1:c.1254G>C, XM_011527264.1:c.1254G>A, NM_003422.3:c.1164G>C, NM_003422.3:c.1164G>A, NM_003422.2:c.1164G>C, NM_003422.2:c.1164G>A, NM_198055.2:c.1164G>C, NM_198055.2:c.1164G>A, NM_198055.1:c.1164G>C, NM_198055.1:c.1164G>A, NM_001267033.2:c.*47G>C, NM_001267033.2:c.*47G>A, NM_001267033.1:c.*47G>C, NM_001267033.1:c.*47G>A, XM_017027206.2:c.312G>C, XM_017027206.2:c.312G>A, XM_017027206.1:c.312G>C, XM_017027206.1:c.312G>A, XM_047439312.1:c.1287G>C, XM_047439312.1:c.1287G>A, XM_047439313.1:c.1287G>C, XM_047439313.1:c.1287G>A, XP_005259261.1:p.Glu429Asp, XP_011525566.1:p.Glu418Asp, NP_003413.2:p.Glu388Asp, NP_932172.1:p.Glu388Asp, XP_016882695.1:p.Glu104Asp, XP_047295268.1:p.Glu429Asp, XP_047295269.1:p.Glu429Asp

                        12.

                        rs1490366025 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          19:58568679 (GRCh38)
                          19:59080046 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:58568678:A:C
                          Gene:
                          MZF1 (Varview), MZF1-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490346005 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:58569516 (GRCh38)
                            19:59080883 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:58569515:C:T
                            Gene:
                            MZF1 (Varview), MZF1-AS1 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1490283124 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:58563333 (GRCh38)
                              19:59074700 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:58563332:T:C
                              Gene:
                              MZF1 (Varview), MZF1-AS1 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0./0 (GnomAD)
                              C=0.000029/7 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1490155994 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GT>- [Show Flanks]
                                Chromosome:
                                19:58566325 (GRCh38)
                                19:59077692 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:58566323:TGT:T
                                Gene:
                                MZF1 (Varview), MZF1-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000021/3 (GnomAD)
                                HGVS:

                                16.

                                rs1490114670 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  19:58565199 (GRCh38)
                                  19:59076566 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:58565198:G:A,NC_000019.10:58565198:G:T
                                  Gene:
                                  MZF1 (Varview), MZF1-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489996978 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    19:58567087 (GRCh38)
                                    19:59078454 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:58567086:T:A
                                    Gene:
                                    MZF1 (Varview), MZF1-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.00007/1 (TOMMO)
                                    HGVS:

                                    18.

                                    rs1489561275 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:58572657 (GRCh38)
                                      19:59084024 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:58572656:G:A
                                      Gene:
                                      MZF1 (Varview), MZF1-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.000007/1 (GnomAD)
                                      A=0.000007/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1489505183 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:58571349 (GRCh38)
                                        19:59082716 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:58571348:G:A
                                        Gene:
                                        MZF1 (Varview), MZF1-AS1 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489414759 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:58573745 (GRCh38)
                                          19:59085112 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:58573744:C:T
                                          Gene:
                                          MZF1 (Varview), CENPBD2P (Varview), MZF1-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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