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Items: 1 to 20 of 22400

1.

rs1491399209 has merged into rs58986182 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
    Chromosome:
    8:43292857 (GRCh38)
    8:43148000 (GRCh37)
    Canonical SPDI:
    NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
    Gene:
    POTEA (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
    -=0.05/2 (GENOME_DK)
    -=0.059458/15738 (TOPMED)
    ...more
    HGVS:
    2.

    rs1491383386 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CTT [Show Flanks]
      Chromosome:
      8:43299047 (GRCh38)
      8:43154191 (GRCh37)
      Canonical SPDI:
      NC_000008.11:43299047:TTCTT:TTCTTCTT
      Gene:
      POTEA (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      TTCTTCTT=0./0 (ALFA)
      HGVS:
      3.

      rs1491363393 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GTTC [Show Flanks]
        Chromosome:
        8:43299091 (GRCh38)
        8:43154235 (GRCh37)
        Canonical SPDI:
        NC_000008.11:43299091:TTC:TTCGTTC
        Gene:
        POTEA (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTCGTTC=0./0 (ALFA)
        HGVS:
        4.

        rs1491298415 has merged into rs1340138409 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T [Show Flanks]
          Chromosome:
          8:43299048 (GRCh38)
          8:43154191 (GRCh37)
          Canonical SPDI:
          NC_000008.11:43299046:TTT:T,NC_000008.11:43299046:TTT:TT
          Gene:
          POTEA (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          -=0.02453/317 (GnomAD)
          HGVS:
          5.

          rs1491270488 has merged into rs1486230561 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>-,T,TTT [Show Flanks]
            Chromosome:
            8:43299092 (GRCh38)
            8:43154235 (GRCh37)
            Canonical SPDI:
            NC_000008.11:43299090:TTT:T,NC_000008.11:43299090:TTT:TT,NC_000008.11:43299090:TTT:TTTT
            Gene:
            POTEA (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            -=0.00014/9 (GnomAD)
            -=0.00047/10 (TOMMO)
            ...more
            HGVS:
            6.

            rs1491260761 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              8:43299042 (GRCh38)
              8:43154185 (GRCh37)
              Canonical SPDI:
              NC_000008.11:43299040:TCT:T
              Gene:
              POTEA (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.00008/1 (ALFA)
              HGVS:
              7.

              rs1491251123 has merged into rs58056216 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                Chromosome:
                8:43358358 (GRCh38)
                8:43213501 (GRCh37)
                Canonical SPDI:
                NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                Gene:
                POTEA (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GTGTGTGTGTGTGTGT=0./0 (ALFA)
                HGVS:
                8.

                rs1491207670 has merged into rs1554557275 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TA>-,TATA [Show Flanks]
                  Chromosome:
                  8:43358371 (GRCh38)
                  8:43213514 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:43358364:TATATATA:TATATA,NC_000008.11:43358364:TATATATA:TATATATATA
                  Gene:
                  POTEA (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TATATATATA=0./0 (ALFA)
                  TA=0.00012/2 (TOMMO)
                  HGVS:
                  9.

                  rs1491117246 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    8:43299041 (GRCh38)
                    8:43154185 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:43299041:C:CC
                    Gene:
                    POTEA (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CC=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491092524 has merged into rs34724609 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      8:43336277 (GRCh38)
                      8:43191420 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      POTEA (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTT=0./0 (ALFA)
                      -=0.05/2 (GENOME_DK)
                      -=0.1913/958 (1000Genomes)
                      ...more
                      HGVS:
                      NC_000008.11:g.43336277_43336284del, NC_000008.11:g.43336278_43336284del, NC_000008.11:g.43336279_43336284del, NC_000008.11:g.43336280_43336284del, NC_000008.11:g.43336281_43336284del, NC_000008.11:g.43336282_43336284del, NC_000008.11:g.43336283_43336284del, NC_000008.11:g.43336284del, NC_000008.11:g.43336266_43336284T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284dup, NC_000008.11:g.43336266_43336284T[20]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336283_43336284dup, NC_000008.11:g.43336282_43336284dup, NC_000008.11:g.43336281_43336284dup, NC_000008.11:g.43336280_43336284dup, NC_000008.11:g.43336279_43336284dup, NC_000008.11:g.43336278_43336284dup, NC_000008.11:g.43336277_43336284dup, NC_000008.11:g.43336276_43336284dup, NC_000008.11:g.43336275_43336284dup, NC_000008.11:g.43336274_43336284dup, NC_000008.11:g.43336273_43336284dup, NC_000008.11:g.43336272_43336284dup, NC_000008.11:g.43336271_43336284dup, NC_000008.11:g.43336270_43336284dup, NC_000008.11:g.43336269_43336284dup, NC_000008.11:g.43336268_43336284dup, NC_000008.11:g.43336266_43336284T[36]ATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[36]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336267_43336284dup, NC_000008.11:g.43336266_43336284dup, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[39]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[39]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[41]ATTTTTTTTTTTTTTTTTTTT[2]T[20], NC_000008.11:g.43336266_43336284T[41]CTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[44]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[47]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[50]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[51]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[55]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[56]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[57]CCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[57]CTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[57]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[59]ATT[2]T[51], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[62]CTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191420_43191427del, NC_000008.10:g.43191421_43191427del, NC_000008.10:g.43191422_43191427del, NC_000008.10:g.43191423_43191427del, NC_000008.10:g.43191424_43191427del, NC_000008.10:g.43191425_43191427del, NC_000008.10:g.43191426_43191427del, NC_000008.10:g.43191427del, NC_000008.10:g.43191409_43191427T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427dup, NC_000008.10:g.43191409_43191427T[20]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191426_43191427dup, NC_000008.10:g.43191425_43191427dup, NC_000008.10:g.43191424_43191427dup, NC_000008.10:g.43191423_43191427dup, NC_000008.10:g.43191422_43191427dup, NC_000008.10:g.43191421_43191427dup, NC_000008.10:g.43191420_43191427dup, NC_000008.10:g.43191419_43191427dup, NC_000008.10:g.43191418_43191427dup, NC_000008.10:g.43191417_43191427dup, NC_000008.10:g.43191416_43191427dup, NC_000008.10:g.43191415_43191427dup, NC_000008.10:g.43191414_43191427dup, NC_000008.10:g.43191413_43191427dup, NC_000008.10:g.43191412_43191427dup, NC_000008.10:g.43191411_43191427dup, NC_000008.10:g.43191409_43191427T[36]ATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[36]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191410_43191427dup, NC_000008.10:g.43191409_43191427dup, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[39]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[39]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[41]ATTTTTTTTTTTTTTTTTTTT[2]T[20], NC_000008.10:g.43191409_43191427T[41]CTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[44]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[47]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[50]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[51]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[55]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[56]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[57]CCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[57]CTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[57]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[59]ATT[2]T[51], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[62]CTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      ...more
                      11.

                      rs1490954261 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G,T [Show Flanks]
                        Chromosome:
                        8:43308894 (GRCh38)
                        8:43164037 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:43308893:C:A,NC_000008.11:43308893:C:G,NC_000008.11:43308893:C:T
                        Gene:
                        POTEA (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        T=0.000071/1 (TOMMO)
                        T=0.000625/4 (1000Genomes)
                        ...more
                        HGVS:
                        12.

                        rs1490937080 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          8:43307691 (GRCh38)
                          8:43162834 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:43307690:G:C
                          Gene:
                          POTEA (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000084/1 (ALFA)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490914512 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            8:43296428 (GRCh38)
                            8:43151571 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:43296427:C:G
                            Gene:
                            POTEA (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000029/4 (GnomAD)
                            G=0.00003/8 (TOPMED)
                            ...more
                            HGVS:
                            14.

                            rs1490864275 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,T [Show Flanks]
                              Chromosome:
                              8:43328095 (GRCh38)
                              8:43183238 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:43328094:A:C,NC_000008.11:43328094:A:T
                              Gene:
                              POTEA (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490856806 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                8:43329537 (GRCh38)
                                8:43184680 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:43329536:G:A,NC_000008.11:43329536:G:T
                                Gene:
                                POTEA (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490806680 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  8:43329056 (GRCh38)
                                  8:43184199 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:43329055:A:C
                                  Gene:
                                  POTEA (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1490795553 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:43351958 (GRCh38)
                                    8:43207101 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:43351957:C:T
                                    Gene:
                                    POTEA (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000064/9 (GnomAD)
                                    T=0.000071/2 (TOMMO)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1490748107 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      8:43344610 (GRCh38)
                                      8:43199753 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:43344609:C:G
                                      Gene:
                                      POTEA (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.00008/1 (ALFA)
                                      G=0.00376/11 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1490743759 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:43312148 (GRCh38)
                                        8:43167291 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:43312147:A:G
                                        Gene:
                                        POTEA (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490729993 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          8:43352868 (GRCh38)
                                          8:43208011 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:43352867:A:G
                                          Gene:
                                          POTEA (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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