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Items: 1 to 20 of 1092

1.

rs1490371031 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    9:21168232 (GRCh38)
    9:21168231 (GRCh37)
    Canonical SPDI:
    NC_000009.12:21168231:T:G
    Gene:
    IFNA21 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000014/2 (GnomAD)
    G=0.000023/6 (TOPMED)
    G=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1489483592 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      9:21166978 (GRCh38)
      9:21166977 (GRCh37)
      Canonical SPDI:
      NC_000009.12:21166977:C:G
      Gene:
      IFNA21 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      G=0.000026/7 (TOPMED)
      HGVS:
      3.

      rs1489422380 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        9:21168451 (GRCh38)
        9:21168450 (GRCh37)
        Canonical SPDI:
        NC_000009.12:21168450:C:G
        Gene:
        IFNA21 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489359301 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:21166610 (GRCh38)
          9:21166609 (GRCh37)
          Canonical SPDI:
          NC_000009.12:21166609:C:T
          Gene:
          IFNA21 (Varview)
          Functional Consequence:
          initiator_codon_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000011/3 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489329193 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            9:21167259 (GRCh38)
            9:21167258 (GRCh37)
            Canonical SPDI:
            NC_000009.12:21167258:A:T
            Gene:
            IFNA21 (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:
            6.

            rs1488863254 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              9:21168616 (GRCh38)
              9:21168615 (GRCh37)
              Canonical SPDI:
              NC_000009.12:21168615:A:C
              Gene:
              IFNA21 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              C=0.004717/1 (Vietnamese)
              HGVS:
              7.

              rs1488272359 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                9:21167833 (GRCh38)
                9:21167832 (GRCh37)
                Canonical SPDI:
                NC_000009.12:21167832:C:A,NC_000009.12:21167832:C:T
                Gene:
                IFNA21 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1488210191 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GTTA>- [Show Flanks]
                  Chromosome:
                  9:21167181 (GRCh38)
                  9:21167180 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:21167178:TAGTTA:TA
                  Gene:
                  IFNA21 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TA=0./0 (ALFA)
                  -=0.000014/2 (GnomAD)
                  -=0.000026/7 (TOPMED)
                  HGVS:
                  9.

                  rs1487918249 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    9:21168241 (GRCh38)
                    9:21168240 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:21168240:G:C
                    Gene:
                    IFNA21 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1487722876 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:21166845 (GRCh38)
                      9:21166844 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:21166844:T:C
                      Gene:
                      IFNA21 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487692772 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:21167588 (GRCh38)
                        9:21167587 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:21167587:C:T
                        Gene:
                        IFNA21 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1487592472 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:21168562 (GRCh38)
                          9:21168561 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:21168561:T:C
                          Gene:
                          IFNA21 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1487393431 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:21166040 (GRCh38)
                            9:21166039 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:21166039:G:A
                            Gene:
                            IFNA21 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1487369855 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:21167930 (GRCh38)
                              9:21167929 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:21167929:T:C
                              Gene:
                              IFNA21 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487041829 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:21166279 (GRCh38)
                                9:21166278 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:21166278:G:A
                                Gene:
                                IFNA21 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000066/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1487031758 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  9:21165384 (GRCh38)
                                  9:21165383 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:21165383:C:G,NC_000009.12:21165383:C:T
                                  Gene:
                                  IFNA21 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1486454454 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    9:21165546 (GRCh38)
                                    9:21165545 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:21165545:T:A
                                    Gene:
                                    IFNA21 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485234354 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:21167696 (GRCh38)
                                      9:21167695 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:21167695:G:A
                                      Gene:
                                      IFNA21 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000066/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483785669 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:21168022 (GRCh38)
                                        9:21168021 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:21168021:T:G
                                        Gene:
                                        IFNA21 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_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.

                                        rs1483755235 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          9:21166631 (GRCh38)
                                          9:21166630 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:21166630:G:A
                                          Gene:
                                          IFNA21 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant
                                          HGVS:

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