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Items: 1 to 20 of 11103

1.

rs1491412193 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    4:118605202 (GRCh38)
    4:119526357 (GRCh37)
    Canonical SPDI:
    NC_000004.12:118605201:TG:
    Gene:
    LOC729218 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000337/4 (ALFA)
    -=0.000035/1 (TOMMO)
    -=0.000405/45 (GnomAD)
    HGVS:
    2.

    rs1491364112 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->CT [Show Flanks]
      Chromosome:
      4:118625035 (GRCh38)
      4:119546191 (GRCh37)
      Canonical SPDI:
      NC_000004.12:118625035::CT
      Gene:
      LOC729218 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      CT=0.00064/11 (TOMMO)
      CT=0.00109/2 (Korea1K)
      HGVS:
      3.

      rs1491328305 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        4:118625037 (GRCh38)
        4:119546192 (GRCh37)
        Canonical SPDI:
        NC_000004.12:118625034:AAAA:AA
        Gene:
        LOC729218 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAA=0.00067/3 (ALFA)
        -=0.00018/3 (TOMMO)
        -=0.00055/1 (Korea1K)
        HGVS:
        4.

        rs1491268621 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          4:118591591 (GRCh38)
          4:119512747 (GRCh37)
          Canonical SPDI:
          NC_000004.12:118591591::C
          Gene:
          LOC729218 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1491250403 has merged into rs778847413 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
            Chromosome:
            4:118594801 (GRCh38)
            4:119515956 (GRCh37)
            Canonical SPDI:
            NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:118594791:TTTTTTTTTTTT:TTTTTTTTTTTTTT
            Gene:
            LOC729218 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            -=0.00061/17 (TOMMO)
            -=0.1/4 (GENOME_DK)
            HGVS:
            6.

            rs1491234285 has merged into rs541275456 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              4:118591600 (GRCh38)
              4:119512755 (GRCh37)
              Canonical SPDI:
              NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:118591590:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              LOC729218 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTT=0./0 (ALFA)
              -=0.01211/7 (NorthernSweden)
              HGVS:
              NC_000004.12:g.118591600_118591618del, NC_000004.12:g.118591602_118591618del, NC_000004.12:g.118591603_118591618del, NC_000004.12:g.118591604_118591618del, NC_000004.12:g.118591605_118591618del, NC_000004.12:g.118591606_118591618del, NC_000004.12:g.118591607_118591618del, NC_000004.12:g.118591608_118591618del, NC_000004.12:g.118591609_118591618del, NC_000004.12:g.118591610_118591618del, NC_000004.12:g.118591611_118591618del, NC_000004.12:g.118591612_118591618del, NC_000004.12:g.118591613_118591618del, NC_000004.12:g.118591614_118591618del, NC_000004.12:g.118591615_118591618del, NC_000004.12:g.118591616_118591618del, NC_000004.12:g.118591617_118591618del, NC_000004.12:g.118591618del, NC_000004.12:g.118591618dup, NC_000004.12:g.118591617_118591618dup, NC_000004.12:g.118591616_118591618dup, NC_000004.12:g.118591615_118591618dup, NC_000004.12:g.118591614_118591618dup, NC_000004.12:g.118591613_118591618dup, NC_000004.12:g.118591612_118591618dup, NC_000004.11:g.119512755_119512773del, NC_000004.11:g.119512757_119512773del, NC_000004.11:g.119512758_119512773del, NC_000004.11:g.119512759_119512773del, NC_000004.11:g.119512760_119512773del, NC_000004.11:g.119512761_119512773del, NC_000004.11:g.119512762_119512773del, NC_000004.11:g.119512763_119512773del, NC_000004.11:g.119512764_119512773del, NC_000004.11:g.119512765_119512773del, NC_000004.11:g.119512766_119512773del, NC_000004.11:g.119512767_119512773del, NC_000004.11:g.119512768_119512773del, NC_000004.11:g.119512769_119512773del, NC_000004.11:g.119512770_119512773del, NC_000004.11:g.119512771_119512773del, NC_000004.11:g.119512772_119512773del, NC_000004.11:g.119512773del, NC_000004.11:g.119512773dup, NC_000004.11:g.119512772_119512773dup, NC_000004.11:g.119512771_119512773dup, NC_000004.11:g.119512770_119512773dup, NC_000004.11:g.119512769_119512773dup, NC_000004.11:g.119512768_119512773dup, NC_000004.11:g.119512767_119512773dup
              7.

              rs1491226977 has merged into rs70941186 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
                Chromosome:
                4:118592393 (GRCh38)
                4:119513548 (GRCh37)
                Canonical SPDI:
                NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000004.12:118592383:GGGGGGGGGGG:GGGGGGGGGGGGGGG
                Gene:
                LOC729218 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGGGGGGGGGGG=0./0 (ALFA)
                -=0.3921/229 (NorthernSweden)
                -=0.45/18 (GENOME_DK)
                HGVS:
                8.

                rs1491221537 has merged into rs1173485989 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  4:118613010 (GRCh38)
                  4:119534165 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:118612999:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  LOC729218 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAA=0./0 (ALFA)
                  AAAAAAA=0.00336/2 (NorthernSweden)
                  HGVS:
                  NC_000004.12:g.118613010_118613025del, NC_000004.12:g.118613013_118613025del, NC_000004.12:g.118613014_118613025del, NC_000004.12:g.118613015_118613025del, NC_000004.12:g.118613016_118613025del, NC_000004.12:g.118613018_118613025del, NC_000004.12:g.118613019_118613025del, NC_000004.12:g.118613020_118613025del, NC_000004.12:g.118613022_118613025del, NC_000004.12:g.118613023_118613025del, NC_000004.12:g.118613024_118613025del, NC_000004.12:g.118613025del, NC_000004.12:g.118613025dup, NC_000004.12:g.118613024_118613025dup, NC_000004.12:g.118613023_118613025dup, NC_000004.12:g.118613022_118613025dup, NC_000004.12:g.118613021_118613025dup, NC_000004.12:g.118613020_118613025dup, NC_000004.12:g.118613019_118613025dup, NC_000004.12:g.118613018_118613025dup, NC_000004.12:g.118613016_118613025dup, NC_000004.11:g.119534165_119534180del, NC_000004.11:g.119534168_119534180del, NC_000004.11:g.119534169_119534180del, NC_000004.11:g.119534170_119534180del, NC_000004.11:g.119534171_119534180del, NC_000004.11:g.119534173_119534180del, NC_000004.11:g.119534174_119534180del, NC_000004.11:g.119534175_119534180del, NC_000004.11:g.119534177_119534180del, NC_000004.11:g.119534178_119534180del, NC_000004.11:g.119534179_119534180del, NC_000004.11:g.119534180del, NC_000004.11:g.119534180dup, NC_000004.11:g.119534179_119534180dup, NC_000004.11:g.119534178_119534180dup, NC_000004.11:g.119534177_119534180dup, NC_000004.11:g.119534176_119534180dup, NC_000004.11:g.119534175_119534180dup, NC_000004.11:g.119534174_119534180dup, NC_000004.11:g.119534173_119534180dup, NC_000004.11:g.119534171_119534180dup
                  9.

                  rs1491219912 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    4:118613000 (GRCh38)
                    4:119534156 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:118613000::G
                    Gene:
                    LOC729218 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491171741 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      4:118594792 (GRCh38)
                      4:119515948 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:118594792::C
                      Gene:
                      LOC729218 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1491169510 has merged into rs377539721 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
                        Chromosome:
                        4:118605218 (GRCh38)
                        4:119526373 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000004.12:118605202:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
                        Gene:
                        LOC729218 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GAGAGAGAGAGAGAGAG=0./0 (ALFA)
                        HGVS:
                        NC_000004.12:g.118605204AG[7], NC_000004.12:g.118605204AG[8], NC_000004.12:g.118605204AG[9], NC_000004.12:g.118605204AG[10], NC_000004.12:g.118605204AG[11], NC_000004.12:g.118605204AG[12], NC_000004.12:g.118605204AG[13], NC_000004.12:g.118605204AG[14], NC_000004.12:g.118605204AG[15], NC_000004.12:g.118605204AG[17], NC_000004.12:g.118605204AG[18], NC_000004.12:g.118605204AG[19], NC_000004.12:g.118605204AG[20], NC_000004.12:g.118605204AG[21], NC_000004.12:g.118605204AG[22], NC_000004.12:g.118605204AG[23], NC_000004.11:g.119526359AG[7], NC_000004.11:g.119526359AG[8], NC_000004.11:g.119526359AG[9], NC_000004.11:g.119526359AG[10], NC_000004.11:g.119526359AG[11], NC_000004.11:g.119526359AG[12], NC_000004.11:g.119526359AG[13], NC_000004.11:g.119526359AG[14], NC_000004.11:g.119526359AG[15], NC_000004.11:g.119526359AG[17], NC_000004.11:g.119526359AG[18], NC_000004.11:g.119526359AG[19], NC_000004.11:g.119526359AG[20], NC_000004.11:g.119526359AG[21], NC_000004.11:g.119526359AG[22], NC_000004.11:g.119526359AG[23]
                        12.

                        rs1491151455 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TG [Show Flanks]
                          Chromosome:
                          4:118592384 (GRCh38)
                          4:119513540 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:118592384:G:GTG
                          Gene:
                          LOC729218 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GTG=0./0 (ALFA)
                          GT=0.00006/3 (GnomAD)
                          HGVS:
                          13.

                          rs1491122792 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->TTTATTAATAATAA [Show Flanks]
                            Chromosome:
                            4:118595821 (GRCh38)
                            4:119516977 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:118595821::TTTATTAATAATAA
                            Gene:
                            LOC729218 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TTTATTAATAATAA=0.0004/2 (ALFA)
                            HGVS:
                            14.

                            rs1490956744 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:118610454 (GRCh38)
                              4:119531609 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:118610453:A:G
                              Gene:
                              LOC729218 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1490933226 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:118623472 (GRCh38)
                                4:119544627 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:118623471:A:G
                                Gene:
                                LOC729218 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490907927 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:118624325 (GRCh38)
                                  4:119545480 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:118624324:A:G
                                  Gene:
                                  LOC729218 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000026/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490887137 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    4:118619214 (GRCh38)
                                    4:119540369 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:118619213:C:A
                                    Gene:
                                    LOC729218 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490859437 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      4:118592078 (GRCh38)
                                      4:119513233 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:118592077:G:A,NC_000004.12:118592077:G:T
                                      Gene:
                                      LOC729218 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000671/3 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000312/2 (1000Genomes)
                                      A=0.000597/10 (TOMMO)
                                      A=0.038014/111 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1490834316 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        4:118633573 (GRCh38)
                                        4:119554728 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:118633572:G:A
                                        Gene:
                                        LOC729218 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000021/3 (GnomAD)
                                        A=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490786151 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:118604491 (GRCh38)
                                          4:119525646 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:118604490:C:T
                                          Gene:
                                          LOC729218 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000312/2 (1000Genomes)
                                          HGVS:

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