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1.

rs1491446795 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->GTTTTTTTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491385799 has merged into rs3067737 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
      Chromosome:
      3:15442221 (GRCh38)
      3:15483728 (GRCh37)
      Canonical SPDI:
      NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
      Gene:
      EAF1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
      GT=0.25399/1272 (1000Genomes)
      HGVS:
      NC_000003.12:g.15442209GT[6], NC_000003.12:g.15442209GT[7], NC_000003.12:g.15442209GT[9], NC_000003.12:g.15442209GT[11], NC_000003.12:g.15442209GT[12], NC_000003.12:g.15442209GT[13], NC_000003.12:g.15442209GT[15], NC_000003.12:g.15442209GT[16], NC_000003.12:g.15442209GT[17], NC_000003.12:g.15442209GT[18], NC_000003.12:g.15442209GT[19], NC_000003.12:g.15442209GT[20], NC_000003.12:g.15442209GT[21], NC_000003.12:g.15442209GT[22], NC_000003.12:g.15442209GT[23], NC_000003.12:g.15442209GT[24], NC_000003.12:g.15442209GT[25], NC_000003.12:g.15442209GT[26], NC_000003.11:g.15483716GT[6], NC_000003.11:g.15483716GT[7], NC_000003.11:g.15483716GT[9], NC_000003.11:g.15483716GT[11], NC_000003.11:g.15483716GT[12], NC_000003.11:g.15483716GT[13], NC_000003.11:g.15483716GT[15], NC_000003.11:g.15483716GT[16], NC_000003.11:g.15483716GT[17], NC_000003.11:g.15483716GT[18], NC_000003.11:g.15483716GT[19], NC_000003.11:g.15483716GT[20], NC_000003.11:g.15483716GT[21], NC_000003.11:g.15483716GT[22], NC_000003.11:g.15483716GT[23], NC_000003.11:g.15483716GT[24], NC_000003.11:g.15483716GT[25], NC_000003.11:g.15483716GT[26], NM_033083.7:c.*3054GT[6], NM_033083.7:c.*3054GT[7], NM_033083.7:c.*3054GT[9], NM_033083.7:c.*3054GT[11], NM_033083.7:c.*3054GT[12], NM_033083.7:c.*3054GT[13], NM_033083.7:c.*3054GT[15], NM_033083.7:c.*3054GT[16], NM_033083.7:c.*3054GT[17], NM_033083.7:c.*3054GT[18], NM_033083.7:c.*3054GT[19], NM_033083.7:c.*3054GT[20], NM_033083.7:c.*3054GT[21], NM_033083.7:c.*3054GT[22], NM_033083.7:c.*3054GT[23], NM_033083.7:c.*3054GT[24], NM_033083.7:c.*3054GT[25], NM_033083.7:c.*3054GT[26], NM_033083.6:c.*3054GT[6], NM_033083.6:c.*3054GT[7], NM_033083.6:c.*3054GT[9], NM_033083.6:c.*3054GT[11], NM_033083.6:c.*3054GT[12], NM_033083.6:c.*3054GT[13], NM_033083.6:c.*3054GT[15], NM_033083.6:c.*3054GT[16], NM_033083.6:c.*3054GT[17], NM_033083.6:c.*3054GT[18], NM_033083.6:c.*3054GT[19], NM_033083.6:c.*3054GT[20], NM_033083.6:c.*3054GT[21], NM_033083.6:c.*3054GT[22], NM_033083.6:c.*3054GT[23], NM_033083.6:c.*3054GT[24], NM_033083.6:c.*3054GT[25], NM_033083.6:c.*3054GT[26], XM_011534165.2:c.*3054GT[6], XM_011534165.2:c.*3054GT[7], XM_011534165.2:c.*3054GT[9], XM_011534165.2:c.*3054GT[11], XM_011534165.2:c.*3054GT[12], XM_011534165.2:c.*3054GT[13], XM_011534165.2:c.*3054GT[15], XM_011534165.2:c.*3054GT[16], XM_011534165.2:c.*3054GT[17], XM_011534165.2:c.*3054GT[18], XM_011534165.2:c.*3054GT[19], XM_011534165.2:c.*3054GT[20], XM_011534165.2:c.*3054GT[21], XM_011534165.2:c.*3054GT[22], XM_011534165.2:c.*3054GT[23], XM_011534165.2:c.*3054GT[24], XM_011534165.2:c.*3054GT[25], XM_011534165.2:c.*3054GT[26], XM_011534165.1:c.*3054GT[6], XM_011534165.1:c.*3054GT[7], XM_011534165.1:c.*3054GT[9], XM_011534165.1:c.*3054GT[11], XM_011534165.1:c.*3054GT[12], XM_011534165.1:c.*3054GT[13], XM_011534165.1:c.*3054GT[15], XM_011534165.1:c.*3054GT[16], XM_011534165.1:c.*3054GT[17], XM_011534165.1:c.*3054GT[18], XM_011534165.1:c.*3054GT[19], XM_011534165.1:c.*3054GT[20], XM_011534165.1:c.*3054GT[21], XM_011534165.1:c.*3054GT[22], XM_011534165.1:c.*3054GT[23], XM_011534165.1:c.*3054GT[24], XM_011534165.1:c.*3054GT[25], XM_011534165.1:c.*3054GT[26], XM_011534166.2:c.*3054GT[6], XM_011534166.2:c.*3054GT[7], XM_011534166.2:c.*3054GT[9], XM_011534166.2:c.*3054GT[11], XM_011534166.2:c.*3054GT[12], XM_011534166.2:c.*3054GT[13], XM_011534166.2:c.*3054GT[15], XM_011534166.2:c.*3054GT[16], XM_011534166.2:c.*3054GT[17], XM_011534166.2:c.*3054GT[18], XM_011534166.2:c.*3054GT[19], XM_011534166.2:c.*3054GT[20], XM_011534166.2:c.*3054GT[21], XM_011534166.2:c.*3054GT[22], XM_011534166.2:c.*3054GT[23], XM_011534166.2:c.*3054GT[24], XM_011534166.2:c.*3054GT[25], XM_011534166.2:c.*3054GT[26], XM_011534166.1:c.*3054GT[6], XM_011534166.1:c.*3054GT[7], XM_011534166.1:c.*3054GT[9], XM_011534166.1:c.*3054GT[11], XM_011534166.1:c.*3054GT[12], XM_011534166.1:c.*3054GT[13], XM_011534166.1:c.*3054GT[15], XM_011534166.1:c.*3054GT[16], XM_011534166.1:c.*3054GT[17], XM_011534166.1:c.*3054GT[18], XM_011534166.1:c.*3054GT[19], XM_011534166.1:c.*3054GT[20], XM_011534166.1:c.*3054GT[21], XM_011534166.1:c.*3054GT[22], XM_011534166.1:c.*3054GT[23], XM_011534166.1:c.*3054GT[24], XM_011534166.1:c.*3054GT[25], XM_011534166.1:c.*3054GT[26]

      3.

      rs1491215109 has merged into rs11343442 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        3:15441499 (GRCh38)
        3:15483006 (GRCh37)
        Canonical SPDI:
        NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15441489:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        EAF1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000003.12:g.15441499_15441511del, NC_000003.12:g.15441500_15441511del, NC_000003.12:g.15441501_15441511del, NC_000003.12:g.15441502_15441511del, NC_000003.12:g.15441503_15441511del, NC_000003.12:g.15441504_15441511del, NC_000003.12:g.15441505_15441511del, NC_000003.12:g.15441506_15441511del, NC_000003.12:g.15441507_15441511del, NC_000003.12:g.15441508_15441511del, NC_000003.12:g.15441509_15441511del, NC_000003.12:g.15441510_15441511del, NC_000003.12:g.15441511del, NC_000003.12:g.15441511dup, NC_000003.12:g.15441510_15441511dup, NC_000003.12:g.15441509_15441511dup, NC_000003.12:g.15441508_15441511dup, NC_000003.12:g.15441507_15441511dup, NC_000003.12:g.15441506_15441511dup, NC_000003.12:g.15441505_15441511dup, NC_000003.12:g.15441504_15441511dup, NC_000003.12:g.15441503_15441511dup, NC_000003.12:g.15441502_15441511dup, NC_000003.12:g.15441501_15441511dup, NC_000003.12:g.15441497_15441511dup, NC_000003.12:g.15441490_15441511dup, NC_000003.12:g.15441511_15441512insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.15483006_15483018del, NC_000003.11:g.15483007_15483018del, NC_000003.11:g.15483008_15483018del, NC_000003.11:g.15483009_15483018del, NC_000003.11:g.15483010_15483018del, NC_000003.11:g.15483011_15483018del, NC_000003.11:g.15483012_15483018del, NC_000003.11:g.15483013_15483018del, NC_000003.11:g.15483014_15483018del, NC_000003.11:g.15483015_15483018del, NC_000003.11:g.15483016_15483018del, NC_000003.11:g.15483017_15483018del, NC_000003.11:g.15483018del, NC_000003.11:g.15483018dup, NC_000003.11:g.15483017_15483018dup, NC_000003.11:g.15483016_15483018dup, NC_000003.11:g.15483015_15483018dup, NC_000003.11:g.15483014_15483018dup, NC_000003.11:g.15483013_15483018dup, NC_000003.11:g.15483012_15483018dup, NC_000003.11:g.15483011_15483018dup, NC_000003.11:g.15483010_15483018dup, NC_000003.11:g.15483009_15483018dup, NC_000003.11:g.15483008_15483018dup, NC_000003.11:g.15483004_15483018dup, NC_000003.11:g.15482997_15483018dup, NC_000003.11:g.15483018_15483019insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_033083.7:c.*2344_*2356del, NM_033083.7:c.*2345_*2356del, NM_033083.7:c.*2346_*2356del, NM_033083.7:c.*2347_*2356del, NM_033083.7:c.*2348_*2356del, NM_033083.7:c.*2349_*2356del, NM_033083.7:c.*2350_*2356del, NM_033083.7:c.*2351_*2356del, NM_033083.7:c.*2352_*2356del, NM_033083.7:c.*2353_*2356del, NM_033083.7:c.*2354_*2356del, NM_033083.7:c.*2355_*2356del, NM_033083.7:c.*2356del, NM_033083.7:c.*2356dup, NM_033083.7:c.*2355_*2356dup, NM_033083.7:c.*2354_*2356dup, NM_033083.7:c.*2353_*2356dup, NM_033083.7:c.*2352_*2356dup, NM_033083.7:c.*2351_*2356dup, NM_033083.7:c.*2350_*2356dup, NM_033083.7:c.*2349_*2356dup, NM_033083.7:c.*2348_*2356dup, NM_033083.7:c.*2347_*2356dup, NM_033083.7:c.*2346_*2356dup, NM_033083.7:c.*2342_*2356dup, NM_033083.7:c.*2335_*2356dup, NM_033083.7:c.*2356_*2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_033083.6:c.*2344_*2356del, NM_033083.6:c.*2345_*2356del, NM_033083.6:c.*2346_*2356del, NM_033083.6:c.*2347_*2356del, NM_033083.6:c.*2348_*2356del, NM_033083.6:c.*2349_*2356del, NM_033083.6:c.*2350_*2356del, NM_033083.6:c.*2351_*2356del, NM_033083.6:c.*2352_*2356del, NM_033083.6:c.*2353_*2356del, NM_033083.6:c.*2354_*2356del, NM_033083.6:c.*2355_*2356del, NM_033083.6:c.*2356del, NM_033083.6:c.*2356dup, NM_033083.6:c.*2355_*2356dup, NM_033083.6:c.*2354_*2356dup, NM_033083.6:c.*2353_*2356dup, NM_033083.6:c.*2352_*2356dup, NM_033083.6:c.*2351_*2356dup, NM_033083.6:c.*2350_*2356dup, NM_033083.6:c.*2349_*2356dup, NM_033083.6:c.*2348_*2356dup, NM_033083.6:c.*2347_*2356dup, NM_033083.6:c.*2346_*2356dup, NM_033083.6:c.*2342_*2356dup, NM_033083.6:c.*2335_*2356dup, NM_033083.6:c.*2356_*2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011534165.2:c.*2344_*2356del, XM_011534165.2:c.*2345_*2356del, XM_011534165.2:c.*2346_*2356del, XM_011534165.2:c.*2347_*2356del, XM_011534165.2:c.*2348_*2356del, XM_011534165.2:c.*2349_*2356del, XM_011534165.2:c.*2350_*2356del, XM_011534165.2:c.*2351_*2356del, XM_011534165.2:c.*2352_*2356del, XM_011534165.2:c.*2353_*2356del, XM_011534165.2:c.*2354_*2356del, XM_011534165.2:c.*2355_*2356del, XM_011534165.2:c.*2356del, XM_011534165.2:c.*2356dup, XM_011534165.2:c.*2355_*2356dup, XM_011534165.2:c.*2354_*2356dup, XM_011534165.2:c.*2353_*2356dup, XM_011534165.2:c.*2352_*2356dup, XM_011534165.2:c.*2351_*2356dup, XM_011534165.2:c.*2350_*2356dup, XM_011534165.2:c.*2349_*2356dup, XM_011534165.2:c.*2348_*2356dup, XM_011534165.2:c.*2347_*2356dup, XM_011534165.2:c.*2346_*2356dup, XM_011534165.2:c.*2342_*2356dup, XM_011534165.2:c.*2335_*2356dup, XM_011534165.2:c.*2356_*2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011534165.1:c.*2344_*2356del, XM_011534165.1:c.*2345_*2356del, XM_011534165.1:c.*2346_*2356del, XM_011534165.1:c.*2347_*2356del, XM_011534165.1:c.*2348_*2356del, XM_011534165.1:c.*2349_*2356del, XM_011534165.1:c.*2350_*2356del, XM_011534165.1:c.*2351_*2356del, XM_011534165.1:c.*2352_*2356del, XM_011534165.1:c.*2353_*2356del, XM_011534165.1:c.*2354_*2356del, XM_011534165.1:c.*2355_*2356del, XM_011534165.1:c.*2356del, XM_011534165.1:c.*2356dup, XM_011534165.1:c.*2355_*2356dup, XM_011534165.1:c.*2354_*2356dup, XM_011534165.1:c.*2353_*2356dup, XM_011534165.1:c.*2352_*2356dup, XM_011534165.1:c.*2351_*2356dup, XM_011534165.1:c.*2350_*2356dup, XM_011534165.1:c.*2349_*2356dup, XM_011534165.1:c.*2348_*2356dup, XM_011534165.1:c.*2347_*2356dup, XM_011534165.1:c.*2346_*2356dup, XM_011534165.1:c.*2342_*2356dup, XM_011534165.1:c.*2335_*2356dup, XM_011534165.1:c.*2356_*2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011534166.2:c.*2344_*2356del, XM_011534166.2:c.*2345_*2356del, XM_011534166.2:c.*2346_*2356del, XM_011534166.2:c.*2347_*2356del, XM_011534166.2:c.*2348_*2356del, XM_011534166.2:c.*2349_*2356del, XM_011534166.2:c.*2350_*2356del, XM_011534166.2:c.*2351_*2356del, XM_011534166.2:c.*2352_*2356del, XM_011534166.2:c.*2353_*2356del, XM_011534166.2:c.*2354_*2356del, XM_011534166.2:c.*2355_*2356del, XM_011534166.2:c.*2356del, XM_011534166.2:c.*2356dup, XM_011534166.2:c.*2355_*2356dup, XM_011534166.2:c.*2354_*2356dup, XM_011534166.2:c.*2353_*2356dup, XM_011534166.2:c.*2352_*2356dup, XM_011534166.2:c.*2351_*2356dup, XM_011534166.2:c.*2350_*2356dup, XM_011534166.2:c.*2349_*2356dup, XM_011534166.2:c.*2348_*2356dup, XM_011534166.2:c.*2347_*2356dup, XM_011534166.2:c.*2346_*2356dup, XM_011534166.2:c.*2342_*2356dup, XM_011534166.2:c.*2335_*2356dup, XM_011534166.2:c.*2356_*2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011534166.1:c.*2344_*2356del, XM_011534166.1:c.*2345_*2356del, XM_011534166.1:c.*2346_*2356del, XM_011534166.1:c.*2347_*2356del, XM_011534166.1:c.*2348_*2356del, XM_011534166.1:c.*2349_*2356del, XM_011534166.1:c.*2350_*2356del, XM_011534166.1:c.*2351_*2356del, XM_011534166.1:c.*2352_*2356del, XM_011534166.1:c.*2353_*2356del, XM_011534166.1:c.*2354_*2356del, XM_011534166.1:c.*2355_*2356del, XM_011534166.1:c.*2356del, XM_011534166.1:c.*2356dup, XM_011534166.1:c.*2355_*2356dup, XM_011534166.1:c.*2354_*2356dup, XM_011534166.1:c.*2353_*2356dup, XM_011534166.1:c.*2352_*2356dup, XM_011534166.1:c.*2351_*2356dup, XM_011534166.1:c.*2350_*2356dup, XM_011534166.1:c.*2349_*2356dup, XM_011534166.1:c.*2348_*2356dup, XM_011534166.1:c.*2347_*2356dup, XM_011534166.1:c.*2346_*2356dup, XM_011534166.1:c.*2342_*2356dup, XM_011534166.1:c.*2335_*2356dup, XM_011534166.1:c.*2356_*2357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

        4.

        rs1491173816 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          3:15442209 (GRCh38)
          3:15483717 (GRCh37)
          Canonical SPDI:
          NC_000003.12:15442209:T:TT
          Gene:
          EAF1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000016/1 (GnomAD)
          HGVS:

          5.

          rs1491147695 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            3:15441489 (GRCh38)
            3:15482996 (GRCh37)
            Canonical SPDI:
            NC_000003.12:15441488:CT:
            Gene:
            EAF1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000066/1 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000043/5 (GnomAD)
            HGVS:

            6.

            rs1490940358 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              3:15436851 (GRCh38)
              3:15478358 (GRCh37)
              Canonical SPDI:
              NC_000003.12:15436850:A:G
              Gene:
              EAF1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000011/3 (TOPMED)
              HGVS:

              7.

              rs1490713128 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                3:15428041 (GRCh38)
                3:15469548 (GRCh37)
                Canonical SPDI:
                NC_000003.12:15428040:G:A,NC_000003.12:15428040:G:C
                Gene:
                EAF1 (Varview), METTL6 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1490709011 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  3:15440832 (GRCh38)
                  3:15482339 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:15440831:T:C
                  Gene:
                  EAF1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1490662582 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:15427412 (GRCh38)
                    3:15468919 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:15427411:G:A
                    Gene:
                    EAF1 (Varview), METTL6 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000019/5 (TOPMED)
                    A=0.000021/3 (GnomAD)
                    HGVS:
                    NC_000003.12:g.15427412G>A, NC_000003.11:g.15468919G>A, XM_005264867.5:c.-135C>T, XM_005264867.4:c.-135C>T, XM_005264867.3:c.-135C>T, XM_005264867.2:c.-135C>T, XM_005264867.1:c.-135C>T, XM_006712972.5:c.-135C>T, XM_006712972.4:c.-135C>T, XM_006712972.3:c.-135C>T, XM_006712972.2:c.-135C>T, XM_006712972.1:c.-135C>T, XM_006712970.5:c.-185C>T, NM_152396.4:c.-135C>T, NM_152396.3:c.-135C>T, NM_152396.2:c.-135C>T, XM_011533357.4:c.-135C>T, XM_011533357.3:c.-135C>T, XM_011533357.2:c.-135C>T, XM_011533357.1:c.-135C>T, XM_017005724.3:c.-135C>T, XM_017005724.2:c.-135C>T, XM_017005724.1:c.-135C>T, XM_017005719.2:c.-135C>T, XM_017005719.1:c.-135C>T, XM_017005723.2:c.-135C>T, XM_017005723.1:c.-135C>T, NM_001301792.2:c.-163C>T, NM_001301792.1:c.-163C>T, NM_001301790.2:c.-135C>T, NM_001301790.1:c.-135C>T, NM_001330662.2:c.-135C>T, NM_001330662.1:c.-135C>T, NM_001301791.2:c.-135C>T, NM_001301791.1:c.-135C>T, XM_047447452.1:c.-185C>T, XM_047447450.1:c.-135C>T, XM_047447456.1:c.-135C>T, XM_047447451.1:c.-185C>T, XM_047447455.1:c.-135C>T, XM_047447454.1:c.-135C>T, XM_047447453.1:c.-135C>T

                    10.

                    rs1490454464 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      3:15435078 (GRCh38)
                      3:15476585 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:15435077:C:
                      Gene:
                      EAF1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000019/5 (TOPMED)
                      -=0.000021/3 (GnomAD)
                      HGVS:

                      11.

                      rs1490180933 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        3:15426924 (GRCh38)
                        3:15468431 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:15426923:C:A,NC_000003.12:15426923:C:T
                        Gene:
                        EAF1 (Varview), METTL6 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490162445 has merged into rs3067737 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                          Chromosome:
                          3:15442221 (GRCh38)
                          3:15483728 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:15442208:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                          Gene:
                          EAF1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                          GT=0.25399/1272 (1000Genomes)
                          HGVS:
                          NC_000003.12:g.15442209GT[6], NC_000003.12:g.15442209GT[7], NC_000003.12:g.15442209GT[9], NC_000003.12:g.15442209GT[11], NC_000003.12:g.15442209GT[12], NC_000003.12:g.15442209GT[13], NC_000003.12:g.15442209GT[15], NC_000003.12:g.15442209GT[16], NC_000003.12:g.15442209GT[17], NC_000003.12:g.15442209GT[18], NC_000003.12:g.15442209GT[19], NC_000003.12:g.15442209GT[20], NC_000003.12:g.15442209GT[21], NC_000003.12:g.15442209GT[22], NC_000003.12:g.15442209GT[23], NC_000003.12:g.15442209GT[24], NC_000003.12:g.15442209GT[25], NC_000003.12:g.15442209GT[26], NC_000003.11:g.15483716GT[6], NC_000003.11:g.15483716GT[7], NC_000003.11:g.15483716GT[9], NC_000003.11:g.15483716GT[11], NC_000003.11:g.15483716GT[12], NC_000003.11:g.15483716GT[13], NC_000003.11:g.15483716GT[15], NC_000003.11:g.15483716GT[16], NC_000003.11:g.15483716GT[17], NC_000003.11:g.15483716GT[18], NC_000003.11:g.15483716GT[19], NC_000003.11:g.15483716GT[20], NC_000003.11:g.15483716GT[21], NC_000003.11:g.15483716GT[22], NC_000003.11:g.15483716GT[23], NC_000003.11:g.15483716GT[24], NC_000003.11:g.15483716GT[25], NC_000003.11:g.15483716GT[26], NM_033083.7:c.*3054GT[6], NM_033083.7:c.*3054GT[7], NM_033083.7:c.*3054GT[9], NM_033083.7:c.*3054GT[11], NM_033083.7:c.*3054GT[12], NM_033083.7:c.*3054GT[13], NM_033083.7:c.*3054GT[15], NM_033083.7:c.*3054GT[16], NM_033083.7:c.*3054GT[17], NM_033083.7:c.*3054GT[18], NM_033083.7:c.*3054GT[19], NM_033083.7:c.*3054GT[20], NM_033083.7:c.*3054GT[21], NM_033083.7:c.*3054GT[22], NM_033083.7:c.*3054GT[23], NM_033083.7:c.*3054GT[24], NM_033083.7:c.*3054GT[25], NM_033083.7:c.*3054GT[26], NM_033083.6:c.*3054GT[6], NM_033083.6:c.*3054GT[7], NM_033083.6:c.*3054GT[9], NM_033083.6:c.*3054GT[11], NM_033083.6:c.*3054GT[12], NM_033083.6:c.*3054GT[13], NM_033083.6:c.*3054GT[15], NM_033083.6:c.*3054GT[16], NM_033083.6:c.*3054GT[17], NM_033083.6:c.*3054GT[18], NM_033083.6:c.*3054GT[19], NM_033083.6:c.*3054GT[20], NM_033083.6:c.*3054GT[21], NM_033083.6:c.*3054GT[22], NM_033083.6:c.*3054GT[23], NM_033083.6:c.*3054GT[24], NM_033083.6:c.*3054GT[25], NM_033083.6:c.*3054GT[26], XM_011534165.2:c.*3054GT[6], XM_011534165.2:c.*3054GT[7], XM_011534165.2:c.*3054GT[9], XM_011534165.2:c.*3054GT[11], XM_011534165.2:c.*3054GT[12], XM_011534165.2:c.*3054GT[13], XM_011534165.2:c.*3054GT[15], XM_011534165.2:c.*3054GT[16], XM_011534165.2:c.*3054GT[17], XM_011534165.2:c.*3054GT[18], XM_011534165.2:c.*3054GT[19], XM_011534165.2:c.*3054GT[20], XM_011534165.2:c.*3054GT[21], XM_011534165.2:c.*3054GT[22], XM_011534165.2:c.*3054GT[23], XM_011534165.2:c.*3054GT[24], XM_011534165.2:c.*3054GT[25], XM_011534165.2:c.*3054GT[26], XM_011534165.1:c.*3054GT[6], XM_011534165.1:c.*3054GT[7], XM_011534165.1:c.*3054GT[9], XM_011534165.1:c.*3054GT[11], XM_011534165.1:c.*3054GT[12], XM_011534165.1:c.*3054GT[13], XM_011534165.1:c.*3054GT[15], XM_011534165.1:c.*3054GT[16], XM_011534165.1:c.*3054GT[17], XM_011534165.1:c.*3054GT[18], XM_011534165.1:c.*3054GT[19], XM_011534165.1:c.*3054GT[20], XM_011534165.1:c.*3054GT[21], XM_011534165.1:c.*3054GT[22], XM_011534165.1:c.*3054GT[23], XM_011534165.1:c.*3054GT[24], XM_011534165.1:c.*3054GT[25], XM_011534165.1:c.*3054GT[26], XM_011534166.2:c.*3054GT[6], XM_011534166.2:c.*3054GT[7], XM_011534166.2:c.*3054GT[9], XM_011534166.2:c.*3054GT[11], XM_011534166.2:c.*3054GT[12], XM_011534166.2:c.*3054GT[13], XM_011534166.2:c.*3054GT[15], XM_011534166.2:c.*3054GT[16], XM_011534166.2:c.*3054GT[17], XM_011534166.2:c.*3054GT[18], XM_011534166.2:c.*3054GT[19], XM_011534166.2:c.*3054GT[20], XM_011534166.2:c.*3054GT[21], XM_011534166.2:c.*3054GT[22], XM_011534166.2:c.*3054GT[23], XM_011534166.2:c.*3054GT[24], XM_011534166.2:c.*3054GT[25], XM_011534166.2:c.*3054GT[26], XM_011534166.1:c.*3054GT[6], XM_011534166.1:c.*3054GT[7], XM_011534166.1:c.*3054GT[9], XM_011534166.1:c.*3054GT[11], XM_011534166.1:c.*3054GT[12], XM_011534166.1:c.*3054GT[13], XM_011534166.1:c.*3054GT[15], XM_011534166.1:c.*3054GT[16], XM_011534166.1:c.*3054GT[17], XM_011534166.1:c.*3054GT[18], XM_011534166.1:c.*3054GT[19], XM_011534166.1:c.*3054GT[20], XM_011534166.1:c.*3054GT[21], XM_011534166.1:c.*3054GT[22], XM_011534166.1:c.*3054GT[23], XM_011534166.1:c.*3054GT[24], XM_011534166.1:c.*3054GT[25], XM_011534166.1:c.*3054GT[26]

                          13.

                          rs1489939792 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            3:15428035 (GRCh38)
                            3:15469542 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:15428034:C:G
                            Gene:
                            EAF1 (Varview), METTL6 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000084/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1489870408 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:15433359 (GRCh38)
                              3:15474866 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:15433358:C:T
                              Gene:
                              EAF1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              HGVS:

                              15.

                              rs1489663577 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:15442880 (GRCh38)
                                3:15484387 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:15442879:T:C
                                Gene:
                                EAF1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000015/4 (TOPMED)
                                HGVS:

                                16.

                                rs1489513566 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  3:15433271 (GRCh38)
                                  3:15474778 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:15433270:G:C
                                  Gene:
                                  EAF1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1489336391 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:15429394 (GRCh38)
                                    3:15470901 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:15429393:T:C
                                    Gene:
                                    EAF1 (Varview), METTL6 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489154624 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GAA>- [Show Flanks]
                                      Chromosome:
                                      3:15426650 (GRCh38)
                                      3:15468157 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:15426647:AAGAA:AA
                                      Gene:
                                      EAF1 (Varview), METTL6 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AA=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1488860854 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        3:15437269 (GRCh38)
                                        3:15478776 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:15437268:C:A,NC_000003.12:15437268:C:T
                                        Gene:
                                        EAF1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.00131/37 (TOMMO)
                                        T=0.00411/12 (KOREAN)
                                        HGVS:

                                        20.

                                        rs1488839796 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:15436743 (GRCh38)
                                          3:15478250 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:15436742:T:C
                                          Gene:
                                          EAF1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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