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Links from Gene

Items: 1 to 20 of 2329

1.

rs1491367177 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    9:117649491 (GRCh38)
    9:120411769 (GRCh37)
    Canonical SPDI:
    NC_000009.12:117649490:CA:
    Gene:
    LOC101928797 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.00003/8 (TOPMED)
    -=0.000036/4 (GnomAD)
    HGVS:
    2.

    rs1490764602 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:117654452 (GRCh38)
      9:120416730 (GRCh37)
      Canonical SPDI:
      NC_000009.12:117654451:G:A
      Gene:
      LOC101928797 (Varview)
      Functional Consequence:
      intron_variant
      HGVS:
      3.

      rs1490266275 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:117654502 (GRCh38)
        9:120416780 (GRCh37)
        Canonical SPDI:
        NC_000009.12:117654501:C:T
        Gene:
        LOC101928797 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1489610705 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:117650288 (GRCh38)
          9:120412566 (GRCh37)
          Canonical SPDI:
          NC_000009.12:117650287:G:A
          Gene:
          LOC101928797 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488932128 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:117651169 (GRCh38)
            9:120413447 (GRCh37)
            Canonical SPDI:
            NC_000009.12:117651168:A:G
            Gene:
            LOC101928797 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488801057 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              9:117652588 (GRCh38)
              9:120414866 (GRCh37)
              Canonical SPDI:
              NC_000009.12:117652587:A:T
              Gene:
              LOC101928797 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488197308 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                9:117647376 (GRCh38)
                9:120409654 (GRCh37)
                Canonical SPDI:
                NC_000009.12:117647375:G:T
                Gene:
                LOC101928797 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1487952836 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->ATAGA [Show Flanks]
                  Chromosome:
                  9:117651593 (GRCh38)
                  9:120413872 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:117651593:ATAGA:ATAGAATAGA
                  Gene:
                  LOC101928797 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  ATAGAATAGA=0./0 (ALFA)
                  ATAGA=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1487901932 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    9:117652719 (GRCh38)
                    9:120414997 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:117652718:T:A
                    Gene:
                    LOC101928797 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000019/5 (TOPMED)
                    A=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1487859743 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:117648152 (GRCh38)
                      9:120410430 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:117648151:A:G
                      Gene:
                      LOC101928797 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      G=0.000156/1 (1000Genomes)
                      HGVS:
                      11.

                      rs1487069931 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:117656850 (GRCh38)
                        9:120419128 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:117656849:C:T
                        Gene:
                        LOC101928797 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1487009440 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          9:117652741 (GRCh38)
                          9:120415019 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:117652740:G:T
                          Gene:
                          LOC101928797 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1486633743 has merged into rs5900299 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            A>-,AA [Show Flanks]
                            Chromosome:
                            9:117649971 (GRCh38)
                            9:120412249 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:117649970:AAAAA:AAAA,NC_000009.12:117649970:AAAAA:AAAAAA
                            Gene:
                            LOC101928797 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAA=0.048091/612 (ALFA)
                            -=0.122817/225 (Korea1K)
                            -=0.124354/2084 (TOMMO)
                            -=0.125/5 (GENOME_DK)
                            -=0.126168/27 (Vietnamese)
                            -=0.129989/482 (TWINSUK)
                            -=0.132071/509 (ALSPAC)
                            -=0.133705/599 (Estonian)
                            -=0.139279/139 (GoNL)
                            -=0.171491/45392 (TOPMED)
                            -=0.175/105 (NorthernSweden)
                            A=0.188698/945 (1000Genomes)
                            HGVS:
                            14.

                            rs1486368923 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:117649025 (GRCh38)
                              9:120411303 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:117649024:C:T
                              Gene:
                              LOC101928797 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              T=0.000045/12 (TOPMED)
                              HGVS:
                              15.

                              rs1485845780 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                9:117648357 (GRCh38)
                                9:120410635 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:117648356:T:G
                                Gene:
                                LOC101928797 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1485017247 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:117653721 (GRCh38)
                                  9:120415999 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:117653720:A:G
                                  Gene:
                                  LOC101928797 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484681372 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:117650825 (GRCh38)
                                    9:120413103 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:117650824:T:C
                                    Gene:
                                    LOC101928797 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000038/10 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484152879 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      C>T
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1484114353 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:117647532 (GRCh38)
                                        9:120409810 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:117647531:C:T
                                        Gene:
                                        LOC101928797 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1483895797 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:117654404 (GRCh38)
                                          9:120416682 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:117654403:A:G
                                          Gene:
                                          LOC101928797 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0./0 (GnomAD)
                                          G=0.000156/1 (1000Genomes)
                                          HGVS:

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