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Items: 1 to 20 of 823

1.

rs1490071364 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    9:21351689 (GRCh38)
    9:21351688 (GRCh37)
    Canonical SPDI:
    NC_000009.12:21351688:A:C
    Gene:
    IFNA6 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490035390 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:21352557 (GRCh38)
      9:21352556 (GRCh37)
      Canonical SPDI:
      NC_000009.12:21352556:T:C
      Gene:
      IFNA6 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1489813267 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        9:21350571 (GRCh38)
        9:21350570 (GRCh37)
        Canonical SPDI:
        NC_000009.12:21350570:T:C
        Gene:
        IFNA6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1489392204 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          9:21350917 (GRCh38)
          9:21350916 (GRCh37)
          Canonical SPDI:
          NC_000009.12:21350916:T:C
          Gene:
          IFNA6 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1489096087 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            9:21350028 (GRCh38)
            9:21350027 (GRCh37)
            Canonical SPDI:
            NC_000009.12:21350027:T:C,NC_000009.12:21350027:T:G
            Gene:
            IFNA6 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1487750052 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              9:21350627 (GRCh38)
              9:21350626 (GRCh37)
              Canonical SPDI:
              NC_000009.12:21350626:G:A,NC_000009.12:21350626:G:C
              Gene:
              IFNA6 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1487727428 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                9:21350254 (GRCh38)
                9:21350253 (GRCh37)
                Canonical SPDI:
                NC_000009.12:21350253:C:A
                Gene:
                IFNA6 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1487081996 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:21350796 (GRCh38)
                  9:21350795 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:21350795:C:T
                  Gene:
                  IFNA6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1486641730 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TAT>- [Show Flanks]
                    Chromosome:
                    9:21350076 (GRCh38)
                    9:21350075 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:21350072:TATTAT:TAT
                    Gene:
                    IFNA6 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TATTAT=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    -=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1486225253 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:21351413 (GRCh38)
                      9:21351412 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:21351412:T:C
                      Gene:
                      IFNA6 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1483376875 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        9:21350698 (GRCh38)
                        9:21350697 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:21350697:C:A
                        Gene:
                        IFNA6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained
                        Validated:
                        by frequency
                        MAF:
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1480724456 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:21352427 (GRCh38)
                          9:21352426 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:21352426:T:C
                          Gene:
                          IFNA6 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1480593562 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            9:21350762 (GRCh38)
                            9:21350761 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:21350761:T:A
                            Gene:
                            IFNA6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1480500577 has merged into rs1387627468 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              T>-,TT [Show Flanks]
                              Chromosome:
                              9:21352093 (GRCh38)
                              9:21352092 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:21352092:TTTTTTTT:TTTTTTT,NC_000009.12:21352092:TTTTTTTT:TTTTTTTTT
                              Gene:
                              IFNA6 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTT=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1479879005 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:21352622 (GRCh38)
                                9:21352621 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:21352621:C:T
                                Gene:
                                IFNA6 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1478679671 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  9:21350139 (GRCh38)
                                  9:21350138 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:21350138:A:C
                                  Gene:
                                  IFNA6 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1477599355 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:21350879 (GRCh38)
                                    9:21350878 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:21350878:C:T
                                    Gene:
                                    IFNA6 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1476731839 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GTT>- [Show Flanks]
                                      Chromosome:
                                      9:21350017 (GRCh38)
                                      9:21350016 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:21350015:TGTT:T
                                      Gene:
                                      IFNA6 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1476715444 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:21351000 (GRCh38)
                                        9:21350999 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:21350999:A:G
                                        Gene:
                                        IFNA6 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,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:
                                        20.

                                        rs1476614423 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:21351904 (GRCh38)
                                          9:21351903 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:21351903:T:C
                                          Gene:
                                          IFNA6 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000023/6 (TOPMED)
                                          HGVS:

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