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Items: 1 to 20 of 10435

1.

rs1491321453 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    14:23986508 (GRCh38)
    14:24455718 (GRCh37)
    Canonical SPDI:
    NC_000014.9:23986508::G
    Gene:
    DHRS4L2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.00002/1 (GnomAD)
    HGVS:

    2.

    rs1491300963 has merged into rs33932387 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
      Chromosome:
      14:23986515 (GRCh38)
      14:24455724 (GRCh37)
      Canonical SPDI:
      NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:23986507:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
      Gene:
      DHRS4L2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAA=0./0 (ALFA)
      -=0.1149/443 (ALSPAC)
      HGVS:
      NC_000014.9:g.23986515_23986520del, NC_000014.9:g.23986516_23986520del, NC_000014.9:g.23986517_23986520del, NC_000014.9:g.23986518_23986520del, NC_000014.9:g.23986519_23986520del, NC_000014.9:g.23986520del, NC_000014.9:g.23986520dup, NC_000014.9:g.23986519_23986520dup, NC_000014.9:g.23986518_23986520dup, NC_000014.8:g.24455724_24455729del, NC_000014.8:g.24455725_24455729del, NC_000014.8:g.24455726_24455729del, NC_000014.8:g.24455727_24455729del, NC_000014.8:g.24455728_24455729del, NC_000014.8:g.24455729del, NC_000014.8:g.24455729dup, NC_000014.8:g.24455728_24455729dup, NC_000014.8:g.24455727_24455729dup, NG_023545.1:g.21642_21647del, NG_023545.1:g.21643_21647del, NG_023545.1:g.21644_21647del, NG_023545.1:g.21645_21647del, NG_023545.1:g.21646_21647del, NG_023545.1:g.21647del, NG_023545.1:g.21647dup, NG_023545.1:g.21646_21647dup, NG_023545.1:g.21645_21647dup, NW_018654722.1:g.292849_292854del, NW_018654722.1:g.292850_292854del, NW_018654722.1:g.292851_292854del, NW_018654722.1:g.292852_292854del, NW_018654722.1:g.292853_292854del, NW_018654722.1:g.292854del, NW_018654722.1:g.292854dup, NW_018654722.1:g.292853_292854dup, NW_018654722.1:g.292852_292854dup

      3.

      rs1491169981 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GT [Show Flanks]
        Chromosome:
        14:24001958 (GRCh38)
        14:24471168 (GRCh37)
        Canonical SPDI:
        NC_000014.9:24001958:T:TGT
        Gene:
        DHRS4L2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        TG=0.0019/10 (GnomAD)
        HGVS:

        4.

        rs1491117235 has merged into rs762131811 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          14:24001968 (GRCh38)
          14:24471177 (GRCh37)
          Canonical SPDI:
          NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:24001957:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          DHRS4L2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          TTTTTTTT=0.125/5 (GENOME_DK)
          HGVS:
          NC_000014.9:g.24001968_24001973del, NC_000014.9:g.24001969_24001973del, NC_000014.9:g.24001970_24001973del, NC_000014.9:g.24001971_24001973del, NC_000014.9:g.24001972_24001973del, NC_000014.9:g.24001973del, NC_000014.9:g.24001973dup, NC_000014.9:g.24001972_24001973dup, NC_000014.9:g.24001971_24001973dup, NC_000014.9:g.24001970_24001973dup, NC_000014.9:g.24001969_24001973dup, NC_000014.9:g.24001968_24001973dup, NC_000014.9:g.24001967_24001973dup, NC_000014.9:g.24001966_24001973dup, NC_000014.9:g.24001958_24001973T[24]CTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.24001965_24001973dup, NC_000014.9:g.24001964_24001973dup, NC_000014.9:g.24001963_24001973dup, NC_000014.9:g.24001962_24001973dup, NC_000014.9:g.24001961_24001973dup, NC_000014.9:g.24001960_24001973dup, NC_000014.9:g.24001959_24001973dup, NC_000014.9:g.24001958_24001973dup, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.24001973_24001974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471177_24471182del, NC_000014.8:g.24471178_24471182del, NC_000014.8:g.24471179_24471182del, NC_000014.8:g.24471180_24471182del, NC_000014.8:g.24471181_24471182del, NC_000014.8:g.24471182del, NC_000014.8:g.24471182dup, NC_000014.8:g.24471181_24471182dup, NC_000014.8:g.24471180_24471182dup, NC_000014.8:g.24471179_24471182dup, NC_000014.8:g.24471178_24471182dup, NC_000014.8:g.24471177_24471182dup, NC_000014.8:g.24471176_24471182dup, NC_000014.8:g.24471175_24471182dup, NC_000014.8:g.24471167_24471182T[24]CTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.24471174_24471182dup, NC_000014.8:g.24471173_24471182dup, NC_000014.8:g.24471172_24471182dup, NC_000014.8:g.24471171_24471182dup, NC_000014.8:g.24471170_24471182dup, NC_000014.8:g.24471169_24471182dup, NC_000014.8:g.24471168_24471182dup, NC_000014.8:g.24471167_24471182dup, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24471182_24471183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37095_37100del, NG_023545.1:g.37096_37100del, NG_023545.1:g.37097_37100del, NG_023545.1:g.37098_37100del, NG_023545.1:g.37099_37100del, NG_023545.1:g.37100del, NG_023545.1:g.37100dup, NG_023545.1:g.37099_37100dup, NG_023545.1:g.37098_37100dup, NG_023545.1:g.37097_37100dup, NG_023545.1:g.37096_37100dup, NG_023545.1:g.37095_37100dup, NG_023545.1:g.37094_37100dup, NG_023545.1:g.37093_37100dup, NG_023545.1:g.37085_37100T[24]CTTTTTTTTTTTTTTTTTT[1], NG_023545.1:g.37092_37100dup, NG_023545.1:g.37091_37100dup, NG_023545.1:g.37090_37100dup, NG_023545.1:g.37089_37100dup, NG_023545.1:g.37088_37100dup, NG_023545.1:g.37087_37100dup, NG_023545.1:g.37086_37100dup, NG_023545.1:g.37085_37100dup, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.37100_37101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308302_308307del, NW_018654722.1:g.308303_308307del, NW_018654722.1:g.308304_308307del, NW_018654722.1:g.308305_308307del, NW_018654722.1:g.308306_308307del, NW_018654722.1:g.308307del, NW_018654722.1:g.308307dup, NW_018654722.1:g.308306_308307dup, NW_018654722.1:g.308305_308307dup, NW_018654722.1:g.308304_308307dup, NW_018654722.1:g.308303_308307dup, NW_018654722.1:g.308302_308307dup, NW_018654722.1:g.308301_308307dup, NW_018654722.1:g.308300_308307dup, NW_018654722.1:g.308292_308307T[24]CTTTTTTTTTTTTTTTTTT[1], NW_018654722.1:g.308299_308307dup, NW_018654722.1:g.308298_308307dup, NW_018654722.1:g.308297_308307dup, NW_018654722.1:g.308296_308307dup, NW_018654722.1:g.308295_308307dup, NW_018654722.1:g.308294_308307dup, NW_018654722.1:g.308293_308307dup, NW_018654722.1:g.308292_308307dup, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.308307_308308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

          5.

          rs1491064391 has merged into rs56024121 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            14:23991747 (GRCh38)
            14:24460956 (GRCh37)
            Canonical SPDI:
            NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23991737:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            DHRS4L2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            T=0.3752/1879 (1000Genomes)
            HGVS:
            NC_000014.9:g.23991747_23991753del, NC_000014.9:g.23991750_23991753del, NC_000014.9:g.23991751_23991753del, NC_000014.9:g.23991752_23991753del, NC_000014.9:g.23991753del, NC_000014.9:g.23991753dup, NC_000014.9:g.23991752_23991753dup, NC_000014.9:g.23991751_23991753dup, NC_000014.9:g.23991750_23991753dup, NC_000014.9:g.23991748_23991753dup, NC_000014.9:g.23991747_23991753dup, NC_000014.9:g.23991753_23991754insTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.24460956_24460962del, NC_000014.8:g.24460959_24460962del, NC_000014.8:g.24460960_24460962del, NC_000014.8:g.24460961_24460962del, NC_000014.8:g.24460962del, NC_000014.8:g.24460962dup, NC_000014.8:g.24460961_24460962dup, NC_000014.8:g.24460960_24460962dup, NC_000014.8:g.24460959_24460962dup, NC_000014.8:g.24460957_24460962dup, NC_000014.8:g.24460956_24460962dup, NC_000014.8:g.24460962_24460963insTTTTTTTTTTTTTTTTTTTTT, NG_023545.1:g.26874_26880del, NG_023545.1:g.26877_26880del, NG_023545.1:g.26878_26880del, NG_023545.1:g.26879_26880del, NG_023545.1:g.26880del, NG_023545.1:g.26880dup, NG_023545.1:g.26879_26880dup, NG_023545.1:g.26878_26880dup, NG_023545.1:g.26877_26880dup, NG_023545.1:g.26875_26880dup, NG_023545.1:g.26874_26880dup, NG_023545.1:g.26880_26881insTTTTTTTTTTTTTTTTTTTTT, NW_018654722.1:g.298081_298087del, NW_018654722.1:g.298084_298087del, NW_018654722.1:g.298085_298087del, NW_018654722.1:g.298086_298087del, NW_018654722.1:g.298087del, NW_018654722.1:g.298087dup, NW_018654722.1:g.298086_298087dup, NW_018654722.1:g.298085_298087dup, NW_018654722.1:g.298084_298087dup, NW_018654722.1:g.298082_298087dup, NW_018654722.1:g.298081_298087dup, NW_018654722.1:g.298087_298088insTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1490999361 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              14:23977313 (GRCh38)
              14:24446522 (GRCh37)
              Canonical SPDI:
              NC_000014.9:23977312:C:A
              Gene:
              DHRS4L2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:

              7.

              rs1490894483 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:23989632 (GRCh38)
                14:24458841 (GRCh37)
                Canonical SPDI:
                NC_000014.9:23989631:C:T
                Gene:
                DHRS4L2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1490817228 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  14:23971484 (GRCh38)
                  14:24440693 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:23971483:G:T
                  Gene:
                  DHRS4L2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1490748715 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:23983898 (GRCh38)
                    14:24453107 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:23983897:G:A
                    Gene:
                    DHRS4L2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1490687884 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      G>C
                      Chromosome:
                      no mapping
                      Canonical SPDI:

                      11.

                      rs1490635903 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:23986196 (GRCh38)
                        14:24455405 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:23986195:G:A
                        Gene:
                        DHRS4L2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.00005/7 (GnomAD)
                        A=0.000087/23 (TOPMED)
                        A=0.000156/1 (1000Genomes)
                        A=0.000885/15 (TOMMO)
                        A=0.001711/5 (KOREAN)
                        HGVS:

                        12.

                        rs1490580196 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          14:23987380 (GRCh38)
                          14:24456589 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:23987379:C:T
                          Gene:
                          DHRS4L2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490510101 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            14:23977683 (GRCh38)
                            14:24446892 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:23977682:A:C
                            Gene:
                            DHRS4L2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1490361209 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              14:24001308 (GRCh38)
                              14:24470517 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:24001307:T:G
                              Gene:
                              DHRS4L2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1490289868 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CG>- [Show Flanks]
                                Chromosome:
                                14:24006615 (GRCh38)
                                14:24475824 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:24006611:GCGCG:GCG
                                Gene:
                                DHRS4L2 (Varview), DHRS4L1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GCG=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                -=0.000156/1 (1000Genomes)
                                HGVS:

                                16.

                                rs1490183678 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  14:23977018 (GRCh38)
                                  14:24446227 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:23977017:G:C
                                  Gene:
                                  DHRS4L2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,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:

                                  17.

                                  rs1490112674 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    14:24002481 (GRCh38)
                                    14:24471690 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:24002480:A:C
                                    Gene:
                                    DHRS4L2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.00008/1 (ALFA)
                                    C=0.00017/2 (TOMMO)
                                    C=0.00036/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490102002 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:23999757 (GRCh38)
                                      14:24468966 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:23999756:C:T
                                      Gene:
                                      DHRS4L2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000009/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490036009 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:24000669 (GRCh38)
                                        14:24469878 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:24000668:A:G
                                        Gene:
                                        DHRS4L2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490001357 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          14:23971158 (GRCh38)
                                          14:24440367 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:23971157:T:A
                                          Gene:
                                          DHRS4L2 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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