U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491589202 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    3:179413171 (GRCh38)
    3:179130959 (GRCh37)
    Canonical SPDI:
    NC_000003.12:179413169:TGT:T
    Gene:
    GNB4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000008/2 (TOPMED)
    -=0.000468/3 (1000Genomes)
    HGVS:

    2.

    rs1491564838 has merged into rs33953450 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      3:179447359 (GRCh38)
      3:179165147 (GRCh37)
      Canonical SPDI:
      NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179447346:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      GNB4 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAA=0./0 (ALFA)
      A=0.4389/2198 (1000Genomes)
      -=0.475/19 (GENOME_DK)
      HGVS:
      NC_000003.12:g.179447359_179447366del, NC_000003.12:g.179447360_179447366del, NC_000003.12:g.179447361_179447366del, NC_000003.12:g.179447364_179447366del, NC_000003.12:g.179447365_179447366del, NC_000003.12:g.179447366del, NC_000003.12:g.179447366dup, NC_000003.12:g.179447365_179447366dup, NC_000003.12:g.179447364_179447366dup, NC_000003.12:g.179447361_179447366dup, NC_000003.12:g.179447354_179447366dup, NC_000003.12:g.179447353_179447366dup, NC_000003.11:g.179165147_179165154del, NC_000003.11:g.179165148_179165154del, NC_000003.11:g.179165149_179165154del, NC_000003.11:g.179165152_179165154del, NC_000003.11:g.179165153_179165154del, NC_000003.11:g.179165154del, NC_000003.11:g.179165154dup, NC_000003.11:g.179165153_179165154dup, NC_000003.11:g.179165152_179165154dup, NC_000003.11:g.179165149_179165154dup, NC_000003.11:g.179165142_179165154dup, NC_000003.11:g.179165141_179165154dup, NG_033163.1:g.9230_9237del, NG_033163.1:g.9231_9237del, NG_033163.1:g.9232_9237del, NG_033163.1:g.9235_9237del, NG_033163.1:g.9236_9237del, NG_033163.1:g.9237del, NG_033163.1:g.9237dup, NG_033163.1:g.9236_9237dup, NG_033163.1:g.9235_9237dup, NG_033163.1:g.9232_9237dup, NG_033163.1:g.9225_9237dup, NG_033163.1:g.9224_9237dup

      3.

      rs1491513671 has merged into rs141411562 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
        Chromosome:
        3:179440892 (GRCh38)
        3:179158680 (GRCh37)
        Canonical SPDI:
        NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:179440880:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
        Gene:
        GNB4 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGAGAGAGAGAGAGAGA=0./0 (ALFA)
        AG=0.4/16 (GENOME_DK)
        HGVS:
        NC_000003.12:g.179440882GA[5], NC_000003.12:g.179440882GA[6], NC_000003.12:g.179440882GA[7], NC_000003.12:g.179440882GA[8], NC_000003.12:g.179440882GA[9], NC_000003.12:g.179440882GA[10], NC_000003.12:g.179440882GA[12], NC_000003.12:g.179440882GA[13], NC_000003.12:g.179440882GA[14], NC_000003.12:g.179440882GA[15], NC_000003.12:g.179440882GA[16], NC_000003.12:g.179440882GA[17], NC_000003.12:g.179440882GA[18], NC_000003.12:g.179440882GA[19], NC_000003.12:g.179440882GA[20], NC_000003.12:g.179440882GA[21], NC_000003.12:g.179440882GA[22], NC_000003.12:g.179440882GA[23], NC_000003.12:g.179440882GA[24], NC_000003.12:g.179440882GA[25], NC_000003.12:g.179440882GA[26], NC_000003.12:g.179440882GA[27], NC_000003.11:g.179158670GA[5], NC_000003.11:g.179158670GA[6], NC_000003.11:g.179158670GA[7], NC_000003.11:g.179158670GA[8], NC_000003.11:g.179158670GA[9], NC_000003.11:g.179158670GA[10], NC_000003.11:g.179158670GA[12], NC_000003.11:g.179158670GA[13], NC_000003.11:g.179158670GA[14], NC_000003.11:g.179158670GA[15], NC_000003.11:g.179158670GA[16], NC_000003.11:g.179158670GA[17], NC_000003.11:g.179158670GA[18], NC_000003.11:g.179158670GA[19], NC_000003.11:g.179158670GA[20], NC_000003.11:g.179158670GA[21], NC_000003.11:g.179158670GA[22], NC_000003.11:g.179158670GA[23], NC_000003.11:g.179158670GA[24], NC_000003.11:g.179158670GA[25], NC_000003.11:g.179158670GA[26], NC_000003.11:g.179158670GA[27], NG_033163.1:g.15682CT[5], NG_033163.1:g.15682CT[6], NG_033163.1:g.15682CT[7], NG_033163.1:g.15682CT[8], NG_033163.1:g.15682CT[9], NG_033163.1:g.15682CT[10], NG_033163.1:g.15682CT[12], NG_033163.1:g.15682CT[13], NG_033163.1:g.15682CT[14], NG_033163.1:g.15682CT[15], NG_033163.1:g.15682CT[16], NG_033163.1:g.15682CT[17], NG_033163.1:g.15682CT[18], NG_033163.1:g.15682CT[19], NG_033163.1:g.15682CT[20], NG_033163.1:g.15682CT[21], NG_033163.1:g.15682CT[22], NG_033163.1:g.15682CT[23], NG_033163.1:g.15682CT[24], NG_033163.1:g.15682CT[25], NG_033163.1:g.15682CT[26], NG_033163.1:g.15682CT[27], XM_005247692.3:c.-3204CT[5], XM_005247692.3:c.-3204CT[6], XM_005247692.3:c.-3204CT[7], XM_005247692.3:c.-3204CT[8], XM_005247692.3:c.-3204CT[9], XM_005247692.3:c.-3204CT[10], XM_005247692.3:c.-3204CT[12], XM_005247692.3:c.-3204CT[13], XM_005247692.3:c.-3204CT[14], XM_005247692.3:c.-3204CT[15], XM_005247692.3:c.-3204CT[16], XM_005247692.3:c.-3204CT[17], XM_005247692.3:c.-3204CT[18], XM_005247692.3:c.-3204CT[19], XM_005247692.3:c.-3204CT[20], XM_005247692.3:c.-3204CT[21], XM_005247692.3:c.-3204CT[22], XM_005247692.3:c.-3204CT[23], XM_005247692.3:c.-3204CT[24], XM_005247692.3:c.-3204CT[25], XM_005247692.3:c.-3204CT[26], XM_005247692.3:c.-3204CT[27]

        4.

        rs1491450524 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          3:179423929 (GRCh38)
          3:179141718 (GRCh37)
          Canonical SPDI:
          NC_000003.12:179423929::C
          Gene:
          GNB4 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:

          5.

          rs1491410787 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            3:179408828 (GRCh38)
            3:179126616 (GRCh37)
            Canonical SPDI:
            NC_000003.12:179408826:AGA:A
            Gene:
            GNB4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:

            6.

            rs1491400490 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              3:179423400 (GRCh38)
              3:179141188 (GRCh37)
              Canonical SPDI:
              NC_000003.12:179423398:TAT:T
              Gene:
              GNB4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              -=0.000036/5 (GnomAD)
              -=0.000038/10 (TOPMED)
              HGVS:

              7.

              rs1491257974 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                3:179423399 (GRCh38)
                3:179141188 (GRCh37)
                Canonical SPDI:
                NC_000003.12:179423399:A:AA
                Gene:
                GNB4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AA=0./0 (ALFA)
                HGVS:

                8.

                rs1491257664 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->CC [Show Flanks]
                  Chromosome:
                  3:179413170 (GRCh38)
                  3:179130959 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:179413170::CC
                  Gene:
                  GNB4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CC=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491208619 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    3:179430075 (GRCh38)
                    3:179147863 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:179430073:ACA:A
                    Gene:
                    GNB4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.07115/844 (ALFA)
                    -=0.00106/18 (TOMMO)
                    -=0.00511/291 (GnomAD)
                    HGVS:

                    10.

                    rs1491141174 has merged into rs71836194 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TG>-,TGTG [Show Flanks]
                      Chromosome:
                      3:179405736 (GRCh38)
                      3:179123524 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:179405723:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000003.12:179405723:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG
                      Gene:
                      GNB4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TGTGTGTGTGTGTGTG=0./0 (ALFA)
                      -=0.00014/2 (TOMMO)
                      HGVS:

                      11.

                      rs1491131388 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>- [Show Flanks]
                        Chromosome:
                        3:179423930 (GRCh38)
                        3:179141718 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:179423928:AAA:A
                        Gene:
                        GNB4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1491125805 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          3:179408827 (GRCh38)
                          3:179126616 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:179408827:G:GG
                          Gene:
                          GNB4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GG=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491027904 has merged into rs555384811 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            3:179398532 (GRCh38)
                            3:179116320 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:179398523:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
                            Gene:
                            GNB4 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAA=0./0 (ALFA)
                            -=0.000015/4 (TOPMED)
                            -=0.15/6 (GENOME_DK)
                            HGVS:
                            NC_000003.12:g.179398532_179398538del, NC_000003.12:g.179398535_179398538del, NC_000003.12:g.179398536_179398538del, NC_000003.12:g.179398537_179398538del, NC_000003.12:g.179398538del, NC_000003.12:g.179398538dup, NC_000003.12:g.179398537_179398538dup, NC_000003.12:g.179398536_179398538dup, NC_000003.12:g.179398535_179398538dup, NC_000003.11:g.179116320_179116326del, NC_000003.11:g.179116323_179116326del, NC_000003.11:g.179116324_179116326del, NC_000003.11:g.179116325_179116326del, NC_000003.11:g.179116326del, NC_000003.11:g.179116326dup, NC_000003.11:g.179116325_179116326dup, NC_000003.11:g.179116324_179116326dup, NC_000003.11:g.179116323_179116326dup, NG_033163.1:g.58054_58060del, NG_033163.1:g.58057_58060del, NG_033163.1:g.58058_58060del, NG_033163.1:g.58059_58060del, NG_033163.1:g.58060del, NG_033163.1:g.58060dup, NG_033163.1:g.58059_58060dup, NG_033163.1:g.58058_58060dup, NG_033163.1:g.58057_58060dup, NM_021629.4:c.*2683_*2689del, NM_021629.4:c.*2686_*2689del, NM_021629.4:c.*2687_*2689del, NM_021629.4:c.*2688_*2689del, NM_021629.4:c.*2689del, NM_021629.4:c.*2689dup, NM_021629.4:c.*2688_*2689dup, NM_021629.4:c.*2687_*2689dup, NM_021629.4:c.*2686_*2689dup, NM_021629.3:c.*2683_*2689del, NM_021629.3:c.*2686_*2689del, NM_021629.3:c.*2687_*2689del, NM_021629.3:c.*2688_*2689del, NM_021629.3:c.*2689del, NM_021629.3:c.*2689dup, NM_021629.3:c.*2688_*2689dup, NM_021629.3:c.*2687_*2689dup, NM_021629.3:c.*2686_*2689dup, XM_005247692.3:c.*2683_*2689del, XM_005247692.3:c.*2686_*2689del, XM_005247692.3:c.*2687_*2689del, XM_005247692.3:c.*2688_*2689del, XM_005247692.3:c.*2689del, XM_005247692.3:c.*2689dup, XM_005247692.3:c.*2688_*2689dup, XM_005247692.3:c.*2687_*2689dup, XM_005247692.3:c.*2686_*2689dup, XM_006713721.3:c.*2683_*2689del, XM_006713721.3:c.*2686_*2689del, XM_006713721.3:c.*2687_*2689del, XM_006713721.3:c.*2688_*2689del, XM_006713721.3:c.*2689del, XM_006713721.3:c.*2689dup, XM_006713721.3:c.*2688_*2689dup, XM_006713721.3:c.*2687_*2689dup, XM_006713721.3:c.*2686_*2689dup, XM_006713721.2:c.*2683_*2689del, XM_006713721.2:c.*2686_*2689del, XM_006713721.2:c.*2687_*2689del, XM_006713721.2:c.*2688_*2689del, XM_006713721.2:c.*2689del, XM_006713721.2:c.*2689dup, XM_006713721.2:c.*2688_*2689dup, XM_006713721.2:c.*2687_*2689dup, XM_006713721.2:c.*2686_*2689dup, XM_047448654.1:c.*2683_*2689del, XM_047448654.1:c.*2686_*2689del, XM_047448654.1:c.*2687_*2689del, XM_047448654.1:c.*2688_*2689del, XM_047448654.1:c.*2689del, XM_047448654.1:c.*2689dup, XM_047448654.1:c.*2688_*2689dup, XM_047448654.1:c.*2687_*2689dup, XM_047448654.1:c.*2686_*2689dup, XM_047448653.1:c.*2683_*2689del, XM_047448653.1:c.*2686_*2689del, XM_047448653.1:c.*2687_*2689del, XM_047448653.1:c.*2688_*2689del, XM_047448653.1:c.*2689del, XM_047448653.1:c.*2689dup, XM_047448653.1:c.*2688_*2689dup, XM_047448653.1:c.*2687_*2689dup, XM_047448653.1:c.*2686_*2689dup

                            14.

                            rs1491007938 has merged into rs11389978 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              3:179435483 (GRCh38)
                              3:179153271 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:179435470:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              GNB4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAA=0./0 (ALFA)
                              -=0.000064/17 (TOPMED)
                              HGVS:
                              NC_000003.12:g.179435483_179435491del, NC_000003.12:g.179435484_179435491del, NC_000003.12:g.179435485_179435491del, NC_000003.12:g.179435486_179435491del, NC_000003.12:g.179435487_179435491del, NC_000003.12:g.179435488_179435491del, NC_000003.12:g.179435489_179435491del, NC_000003.12:g.179435490_179435491del, NC_000003.12:g.179435491del, NC_000003.12:g.179435491dup, NC_000003.12:g.179435490_179435491dup, NC_000003.12:g.179435489_179435491dup, NC_000003.12:g.179435488_179435491dup, NC_000003.12:g.179435487_179435491dup, NC_000003.12:g.179435486_179435491dup, NC_000003.12:g.179435482_179435491dup, NC_000003.12:g.179435481_179435491dup, NC_000003.12:g.179435479_179435491dup, NC_000003.12:g.179435477_179435491dup, NC_000003.12:g.179435475_179435491dup, NC_000003.12:g.179435491_179435492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.179435471_179435491A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.179153271_179153279del, NC_000003.11:g.179153272_179153279del, NC_000003.11:g.179153273_179153279del, NC_000003.11:g.179153274_179153279del, NC_000003.11:g.179153275_179153279del, NC_000003.11:g.179153276_179153279del, NC_000003.11:g.179153277_179153279del, NC_000003.11:g.179153278_179153279del, NC_000003.11:g.179153279del, NC_000003.11:g.179153279dup, NC_000003.11:g.179153278_179153279dup, NC_000003.11:g.179153277_179153279dup, NC_000003.11:g.179153276_179153279dup, NC_000003.11:g.179153275_179153279dup, NC_000003.11:g.179153274_179153279dup, NC_000003.11:g.179153270_179153279dup, NC_000003.11:g.179153269_179153279dup, NC_000003.11:g.179153267_179153279dup, NC_000003.11:g.179153265_179153279dup, NC_000003.11:g.179153263_179153279dup, NC_000003.11:g.179153279_179153280insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.179153259_179153279A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_033163.1:g.21105_21113del, NG_033163.1:g.21106_21113del, NG_033163.1:g.21107_21113del, NG_033163.1:g.21108_21113del, NG_033163.1:g.21109_21113del, NG_033163.1:g.21110_21113del, NG_033163.1:g.21111_21113del, NG_033163.1:g.21112_21113del, NG_033163.1:g.21113del, NG_033163.1:g.21113dup, NG_033163.1:g.21112_21113dup, NG_033163.1:g.21111_21113dup, NG_033163.1:g.21110_21113dup, NG_033163.1:g.21109_21113dup, NG_033163.1:g.21108_21113dup, NG_033163.1:g.21104_21113dup, NG_033163.1:g.21103_21113dup, NG_033163.1:g.21101_21113dup, NG_033163.1:g.21099_21113dup, NG_033163.1:g.21097_21113dup, NG_033163.1:g.21113_21114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033163.1:g.21093_21113T[40]GTTTTTTTTTTTTTTTTTTTTTT[1]

                              15.

                              rs1490916393 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                3:179442626 (GRCh38)
                                3:179160414 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:179442625:A:C
                                Gene:
                                GNB4 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490911089 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  3:179443967 (GRCh38)
                                  3:179161755 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:179443966:G:C
                                  Gene:
                                  GNB4 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000021/3 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490868268 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    3:179427924 (GRCh38)
                                    3:179145712 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:179427923:C:A
                                    Gene:
                                    GNB4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490816140 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      3:179436046 (GRCh38)
                                      3:179153834 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:179436045:C:A
                                      Gene:
                                      GNB4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000156/1 (1000Genomes)
                                      HGVS:

                                      19.

                                      rs1490763405 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:179435055 (GRCh38)
                                        3:179152843 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:179435054:A:G
                                        Gene:
                                        GNB4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000015/4 (TOPMED)
                                        G=0.000029/4 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490680183 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          3:179423917 (GRCh38)
                                          3:179141705 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:179423916:G:C,NC_000003.12:179423916:G:T
                                          Gene:
                                          GNB4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...