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Items: 1 to 20 of 1000

1.

rs1491468020 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTCTGAAAATTTCTTTTTTTTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491341961 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      5:150777569 (GRCh38)
      5:150157131 (GRCh37)
      Canonical SPDI:
      NC_000005.10:150777568:CA:
      Gene:
      SMIM3 (Varview), LOC124901110 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1491222186 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        5:150788633 (GRCh38)
        5:150168195 (GRCh37)
        Canonical SPDI:
        NC_000005.10:150788632:CA:
        Gene:
        SMIM3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0./0 (ALSPAC)
        -=0.0005/2 (TWINSUK)
        HGVS:

        4.

        rs1491151744 has merged into rs35401611 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTAAAATGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGAAAATGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTAAAATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          5:150785094 (GRCh38)
          5:150164656 (GRCh37)
          Canonical SPDI:
          NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTAAAATGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGAAAATGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785083:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          SMIM3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTT=0./0 (ALFA)
          -=0./0 (GENOME_DK)
          HGVS:
          NC_000005.10:g.150785094_150785105del, NC_000005.10:g.150785095_150785105del, NC_000005.10:g.150785096_150785105del, NC_000005.10:g.150785097_150785105del, NC_000005.10:g.150785098_150785105del, NC_000005.10:g.150785099_150785105del, NC_000005.10:g.150785101_150785105del, NC_000005.10:g.150785102_150785105del, NC_000005.10:g.150785103_150785105del, NC_000005.10:g.150785104_150785105del, NC_000005.10:g.150785105del, NC_000005.10:g.150785105dup, NC_000005.10:g.150785104_150785105dup, NC_000005.10:g.150785084_150785105T[24]A[4]TGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.150785103_150785105dup, NC_000005.10:g.150785084_150785105T[25]AATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.150785084_150785105T[25]GAAAATGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.150785102_150785105dup, NC_000005.10:g.150785100_150785105dup, NC_000005.10:g.150785099_150785105dup, NC_000005.10:g.150785098_150785105dup, NC_000005.10:g.150785097_150785105dup, NC_000005.10:g.150785084_150785105T[32]CTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.150785095_150785105dup, NC_000005.10:g.150785094_150785105dup, NC_000005.10:g.150785093_150785105dup, NC_000005.10:g.150785084_150785105T[35]A[4]T[27], NC_000005.10:g.150785092_150785105dup, NC_000005.10:g.150785091_150785105dup, NC_000005.10:g.150785090_150785105dup, NC_000005.10:g.150785089_150785105dup, NC_000005.10:g.150785105_150785106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.150785105_150785106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150164656_150164667del, NC_000005.9:g.150164657_150164667del, NC_000005.9:g.150164658_150164667del, NC_000005.9:g.150164659_150164667del, NC_000005.9:g.150164660_150164667del, NC_000005.9:g.150164661_150164667del, NC_000005.9:g.150164663_150164667del, NC_000005.9:g.150164664_150164667del, NC_000005.9:g.150164665_150164667del, NC_000005.9:g.150164666_150164667del, NC_000005.9:g.150164667del, NC_000005.9:g.150164667dup, NC_000005.9:g.150164666_150164667dup, NC_000005.9:g.150164646_150164667T[24]A[4]TGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.150164665_150164667dup, NC_000005.9:g.150164646_150164667T[25]AATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.150164646_150164667T[25]GAAAATGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.150164664_150164667dup, NC_000005.9:g.150164662_150164667dup, NC_000005.9:g.150164661_150164667dup, NC_000005.9:g.150164660_150164667dup, NC_000005.9:g.150164659_150164667dup, NC_000005.9:g.150164646_150164667T[32]CTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.150164657_150164667dup, NC_000005.9:g.150164656_150164667dup, NC_000005.9:g.150164655_150164667dup, NC_000005.9:g.150164646_150164667T[35]A[4]T[27], NC_000005.9:g.150164654_150164667dup, NC_000005.9:g.150164653_150164667dup, NC_000005.9:g.150164652_150164667dup, NC_000005.9:g.150164651_150164667dup, NC_000005.9:g.150164667_150164668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150164667_150164668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

          5.

          rs1491082409 has merged into rs755904476 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GG>- [Show Flanks]
            Chromosome:
            5:150776435 (GRCh38)
            5:150155997 (GRCh37)
            Canonical SPDI:
            NC_000005.10:150776433:GGG:G
            Gene:
            LOC124901110 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000671/3 (ALFA)
            -=0.000335/47 (GnomAD)
            -=0.00067/3 (Estonian)
            HGVS:

            6.

            rs1491031262 has merged into rs35273478 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTGGTTTTCTTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              5:150785590 (GRCh38)
              5:150165152 (GRCh37)
              Canonical SPDI:
              NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGGTTTTCTTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150785580:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              SMIM3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTT=0./0 (ALFA)
              TTTTTTTTTTT=0./0 (GENOME_DK)
              HGVS:
              NC_000005.10:g.150785590_150785600del, NC_000005.10:g.150785591_150785600del, NC_000005.10:g.150785592_150785600del, NC_000005.10:g.150785593_150785600del, NC_000005.10:g.150785594_150785600del, NC_000005.10:g.150785595_150785600del, NC_000005.10:g.150785596_150785600del, NC_000005.10:g.150785598_150785600del, NC_000005.10:g.150785599_150785600del, NC_000005.10:g.150785600del, NC_000005.10:g.150785600dup, NC_000005.10:g.150785599_150785600dup, NC_000005.10:g.150785581_150785600T[22]GGTTTTCTTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.150785598_150785600dup, NC_000005.10:g.150785597_150785600dup, NC_000005.10:g.150785581_150785600T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.150785596_150785600dup, NC_000005.10:g.150785595_150785600dup, NC_000005.10:g.150785594_150785600dup, NC_000005.10:g.150785593_150785600dup, NC_000005.10:g.150785592_150785600dup, NC_000005.10:g.150785591_150785600dup, NC_000005.10:g.150785590_150785600dup, NC_000005.10:g.150785589_150785600dup, NC_000005.10:g.150785588_150785600dup, NC_000005.10:g.150785587_150785600dup, NC_000005.10:g.150785586_150785600dup, NC_000005.10:g.150785585_150785600dup, NC_000005.10:g.150785581_150785600dup, NC_000005.10:g.150785600_150785601insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.150785600_150785601insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.150785600_150785601insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.150785600_150785601insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150165152_150165162del, NC_000005.9:g.150165153_150165162del, NC_000005.9:g.150165154_150165162del, NC_000005.9:g.150165155_150165162del, NC_000005.9:g.150165156_150165162del, NC_000005.9:g.150165157_150165162del, NC_000005.9:g.150165158_150165162del, NC_000005.9:g.150165160_150165162del, NC_000005.9:g.150165161_150165162del, NC_000005.9:g.150165162del, NC_000005.9:g.150165162dup, NC_000005.9:g.150165161_150165162dup, NC_000005.9:g.150165143_150165162T[22]GGTTTTCTTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.150165160_150165162dup, NC_000005.9:g.150165159_150165162dup, NC_000005.9:g.150165143_150165162T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.150165158_150165162dup, NC_000005.9:g.150165157_150165162dup, NC_000005.9:g.150165156_150165162dup, NC_000005.9:g.150165155_150165162dup, NC_000005.9:g.150165154_150165162dup, NC_000005.9:g.150165153_150165162dup, NC_000005.9:g.150165152_150165162dup, NC_000005.9:g.150165151_150165162dup, NC_000005.9:g.150165150_150165162dup, NC_000005.9:g.150165149_150165162dup, NC_000005.9:g.150165148_150165162dup, NC_000005.9:g.150165147_150165162dup, NC_000005.9:g.150165143_150165162dup, NC_000005.9:g.150165162_150165163insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150165162_150165163insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150165162_150165163insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150165162_150165163insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

              7.

              rs1490955677 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                5:150787558 (GRCh38)
                5:150167121 (GRCh37)
                Canonical SPDI:
                NC_000005.10:150787558:T:TT
                Gene:
                SMIM3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TT=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1490520400 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  5:150796521 (GRCh38)
                  5:150176083 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:150796520:T:C
                  Gene:
                  SMIM3 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1490507794 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:150787319 (GRCh38)
                    5:150166881 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:150787318:C:T
                    Gene:
                    SMIM3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1490492041 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      5:150789890 (GRCh38)
                      5:150169452 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:150789889:T:G
                      Gene:
                      SMIM3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490460411 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:150786890 (GRCh38)
                        5:150166452 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:150786889:C:T
                        Gene:
                        SMIM3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        T=0.000029/4 (GnomAD)
                        HGVS:

                        12.

                        rs1490203789 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          5:150780873 (GRCh38)
                          5:150160435 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:150780872:A:C
                          Gene:
                          SMIM3 (Varview), LOC124901110 (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:

                          13.

                          rs1490157858 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:150792276 (GRCh38)
                            5:150171838 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:150792275:G:A
                            Gene:
                            SMIM3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:

                            14.

                            rs1489847399 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              5:150779398 (GRCh38)
                              5:150158960 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:150779397:T:G
                              Gene:
                              SMIM3 (Varview), LOC124901110 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1489720947 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                5:150793667 (GRCh38)
                                5:150173229 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:150793666:C:A
                                Gene:
                                SMIM3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1489488061 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  5:150791084 (GRCh38)
                                  5:150170646 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:150791083:G:T
                                  Gene:
                                  SMIM3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1489259632 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    5:150784790 (GRCh38)
                                    5:150164352 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:150784789:A:G
                                    Gene:
                                    SMIM3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489251700 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      5:150786139 (GRCh38)
                                      5:150165701 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:150786138:A:C
                                      Gene:
                                      SMIM3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      C=0.000015/4 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1488817487 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        5:150792622 (GRCh38)
                                        5:150172184 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:150792621:C:A,NC_000005.10:150792621:C:T
                                        Gene:
                                        SMIM3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1488578940 has merged into rs568690176 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          5:150777580 (GRCh38)
                                          5:150157142 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:150777569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          SMIM3 (Varview), LOC124901110 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAA=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.017372/87 (1000Genomes)
                                          HGVS:
                                          NC_000005.10:g.150777580_150777593del, NC_000005.10:g.150777581_150777593del, NC_000005.10:g.150777582_150777593del, NC_000005.10:g.150777583_150777593del, NC_000005.10:g.150777584_150777593del, NC_000005.10:g.150777587_150777593del, NC_000005.10:g.150777588_150777593del, NC_000005.10:g.150777589_150777593del, NC_000005.10:g.150777590_150777593del, NC_000005.10:g.150777591_150777593del, NC_000005.10:g.150777592_150777593del, NC_000005.10:g.150777593del, NC_000005.10:g.150777593dup, NC_000005.10:g.150777592_150777593dup, NC_000005.10:g.150777591_150777593dup, NC_000005.10:g.150777590_150777593dup, NC_000005.10:g.150777589_150777593dup, NC_000005.9:g.150157142_150157155del, NC_000005.9:g.150157143_150157155del, NC_000005.9:g.150157144_150157155del, NC_000005.9:g.150157145_150157155del, NC_000005.9:g.150157146_150157155del, NC_000005.9:g.150157149_150157155del, NC_000005.9:g.150157150_150157155del, NC_000005.9:g.150157151_150157155del, NC_000005.9:g.150157152_150157155del, NC_000005.9:g.150157153_150157155del, NC_000005.9:g.150157154_150157155del, NC_000005.9:g.150157155del, NC_000005.9:g.150157155dup, NC_000005.9:g.150157154_150157155dup, NC_000005.9:g.150157153_150157155dup, NC_000005.9:g.150157152_150157155dup, NC_000005.9:g.150157151_150157155dup, XM_047417994.1:c.*897_*910del, XM_047417994.1:c.*898_*910del, XM_047417994.1:c.*899_*910del, XM_047417994.1:c.*900_*910del, XM_047417994.1:c.*901_*910del, XM_047417994.1:c.*904_*910del, XM_047417994.1:c.*905_*910del, XM_047417994.1:c.*906_*910del, XM_047417994.1:c.*907_*910del, XM_047417994.1:c.*908_*910del, XM_047417994.1:c.*909_*910del, XM_047417994.1:c.*910del, XM_047417994.1:c.*910dup, XM_047417994.1:c.*909_*910dup, XM_047417994.1:c.*908_*910dup, XM_047417994.1:c.*907_*910dup, XM_047417994.1:c.*906_*910dup, XM_047417995.1:c.*897_*910del, XM_047417995.1:c.*898_*910del, XM_047417995.1:c.*899_*910del, XM_047417995.1:c.*900_*910del, XM_047417995.1:c.*901_*910del, XM_047417995.1:c.*904_*910del, XM_047417995.1:c.*905_*910del, XM_047417995.1:c.*906_*910del, XM_047417995.1:c.*907_*910del, XM_047417995.1:c.*908_*910del, XM_047417995.1:c.*909_*910del, XM_047417995.1:c.*910del, XM_047417995.1:c.*910dup, XM_047417995.1:c.*909_*910dup, XM_047417995.1:c.*908_*910dup, XM_047417995.1:c.*907_*910dup, XM_047417995.1:c.*906_*910dup

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