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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491070176 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    9:21240629 (GRCh38)
    9:21240628 (GRCh37)
    Canonical SPDI:
    NC_000009.12:21240627:AGA:A
    Gene:
    IFNA14 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    -=0.00032/9 (TOMMO)
    HGVS:
    2.

    rs1490031980 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      9:21240164 (GRCh38)
      9:21240163 (GRCh37)
      Canonical SPDI:
      NC_000009.12:21240163:C:A
      Gene:
      IFNA14 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000023/6 (TOPMED)
      A=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1489657539 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:21239865 (GRCh38)
        9:21239864 (GRCh37)
        Canonical SPDI:
        NC_000009.12:21239864:C:T
        Gene:
        IFNA14 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1489361148 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          9:21240189 (GRCh38)
          9:21240188 (GRCh37)
          Canonical SPDI:
          NC_000009.12:21240188:T:C
          Gene:
          IFNA14 (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=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489308311 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            9:21241038 (GRCh38)
            9:21241037 (GRCh37)
            Canonical SPDI:
            NC_000009.12:21241037:T:C
            Gene:
            IFNA14 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488612432 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:21241150 (GRCh38)
              9:21241149 (GRCh37)
              Canonical SPDI:
              NC_000009.12:21241149:G:A
              Gene:
              IFNA14 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1488461323 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                9:21238925 (GRCh38)
                9:21238924 (GRCh37)
                Canonical SPDI:
                NC_000009.12:21238924:C:A,NC_000009.12:21238924:C:T
                Gene:
                IFNA14 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1488288245 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  9:21241523 (GRCh38)
                  9:21241522 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:21241522:A:C,NC_000009.12:21241522:A:G
                  Gene:
                  IFNA14 (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:
                  9.

                  rs1488261685 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:21240964 (GRCh38)
                    9:21240963 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:21240963:T:C
                    Gene:
                    IFNA14 (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:
                    10.

                    rs1487704394 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      9:21239490 (GRCh38)
                      9:21239489 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:21239489:C:G,NC_000009.12:21239489:C:T
                      Gene:
                      IFNA14 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000028/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1485012734 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GT>- [Show Flanks]
                        Chromosome:
                        9:21240723 (GRCh38)
                        9:21240722 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:21240719:TGTGT:TGT
                        Gene:
                        IFNA14 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TGT=0./0 (ALFA)
                        -=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1483596714 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          9:21238918 (GRCh38)
                          9:21238917 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:21238917:A:C
                          Gene:
                          IFNA14 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000021/3 (GnomAD)
                          C=0.000034/9 (TOPMED)
                          HGVS:
                          13.

                          rs1482201395 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:21239793 (GRCh38)
                            9:21239792 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:21239792:G:T
                            Gene:
                            IFNA14 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1481949219 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:21239128 (GRCh38)
                              9:21239127 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:21239127:A:G
                              Gene:
                              IFNA14 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1481609429 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                9:21239400 (GRCh38)
                                9:21239399 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:21239399:G:T
                                Gene:
                                IFNA14 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.0002/2 (ALFA)
                                HGVS:
                                16.

                                rs1481383407 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  9:21240772 (GRCh38)
                                  9:21240771 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:21240771:C:T
                                  Gene:
                                  IFNA14 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481273236 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:21239455 (GRCh38)
                                    9:21239454 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:21239454:G:A
                                    Gene:
                                    IFNA14 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_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.

                                    rs1481045140 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:21241568 (GRCh38)
                                      9:21241567 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:21241567:A:G
                                      Gene:
                                      IFNA14 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1481016193 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        9:21240094 (GRCh38)
                                        9:21240093 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:21240093:T:A
                                        Gene:
                                        IFNA14 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.00003/8 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1480342430 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A,AA [Show Flanks]
                                          Chromosome:
                                          9:21241834 (GRCh38)
                                          9:21241834 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:21241834:A:AA,NC_000009.12:21241834:A:AAA
                                          Gene:
                                          IFNA14 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAA=0./0 (ALFA)
                                          AA=0.000008/2 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

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