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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490168393 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:474115 (GRCh38)
    5:474230 (GRCh37)
    Canonical SPDI:
    NC_000005.10:474114:C:T
    Gene:
    SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
    Functional Consequence:
    intron_variant,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:
    2.

    rs1490004997 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      5:473812 (GRCh38)
      5:473927 (GRCh37)
      Canonical SPDI:
      NC_000005.10:473811:G:A
      Gene:
      SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1489699721 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        5:479367 (GRCh38)
        5:479482 (GRCh37)
        Canonical SPDI:
        NC_000005.10:479366:G:A,NC_000005.10:479366:G:T
        Gene:
        SLC9A3 (Varview), SLC9A3-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1489600690 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          5:472142 (GRCh38)
          5:472257 (GRCh37)
          Canonical SPDI:
          NC_000005.10:472141:A:C
          Gene:
          SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000011/3 (TOPMED)
          C=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1489530815 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            5:475840 (GRCh38)
            5:475955 (GRCh37)
            Canonical SPDI:
            NC_000005.10:475839:C:T
            Gene:
            SLC9A3 (Varview), SLC9A3-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000015/4 (TOPMED)
            T=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1489469712 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:476310 (GRCh38)
              5:476425 (GRCh37)
              Canonical SPDI:
              NC_000005.10:476309:G:A
              Gene:
              SLC9A3 (Varview), SLC9A3-AS1 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              HGVS:
              7.

              rs1489077548 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                5:474096 (GRCh38)
                5:474211 (GRCh37)
                Canonical SPDI:
                NC_000005.10:474095:G:A,NC_000005.10:474095:G:C
                Gene:
                SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                C=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1489047328 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  5:475930 (GRCh38)
                  5:476045 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:475929:T:C
                  Gene:
                  SLC9A3 (Varview), SLC9A3-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488817510 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    5:478915 (GRCh38)
                    5:479030 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:478914:C:A
                    Gene:
                    SLC9A3 (Varview), SLC9A3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488676523 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      5:471470 (GRCh38)
                      5:471585 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:471469:A:G
                      Gene:
                      SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488390871 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ACCA>- [Show Flanks]
                        Chromosome:
                        5:474203 (GRCh38)
                        5:474318 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:474201:AACCA:A
                        Gene:
                        SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.00004/1 (TOMMO)
                        HGVS:
                        12.

                        rs1487949498 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:476121 (GRCh38)
                          5:476236 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:476120:C:T
                          Gene:
                          SLC9A3 (Varview), SLC9A3-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000224/1 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000223/1 (Estonian)
                          HGVS:
                          13.

                          rs1487866012 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TGG>- [Show Flanks]
                            Chromosome:
                            5:480326 (GRCh38)
                            5:480441 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:480324:GTGG:G
                            Gene:
                            SLC9A3 (Varview), SLC9A3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1487569847 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTAGGGTCACCGGG>- [Show Flanks]
                              Chromosome:
                              5:475229 (GRCh38)
                              5:475344 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:475227:GTTAGGGTCACCGGG:G
                              Gene:
                              SLC9A3 (Varview), SLC9A3-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000071/1 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487275781 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                5:474733 (GRCh38)
                                5:474848 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:474732:G:A
                                Gene:
                                SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.00008/1 (ALFA)
                                HGVS:
                                16.

                                rs1486905964 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  5:473012 (GRCh38)
                                  5:473127 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:473011:C:A,NC_000005.10:473011:C:T
                                  Gene:
                                  SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486700098 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    5:474663 (GRCh38)
                                    5:474778 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:474662:A:
                                    Gene:
                                    SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1486525436 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:479125 (GRCh38)
                                      5:479240 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:479124:C:T
                                      Gene:
                                      SLC9A3 (Varview), SLC9A3-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000038/10 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486223199 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        5:472406 (GRCh38)
                                        5:472521 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:472405:C:G
                                        Gene:
                                        SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,intron_variant,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.

                                        rs1485551108 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          5:479604 (GRCh38)
                                          5:479719 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:479603:C:G,NC_000005.10:479603:C:T
                                          Gene:
                                          SLC9A3 (Varview), SLC9A3-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.00034/1 (KOREAN)
                                          T=0.01402/3 (Vietnamese)
                                          HGVS:

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