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Items: 1 to 20 of 1605

1.

rs1490507111 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    9:121283704 (GRCh38)
    9:124045982 (GRCh37)
    Canonical SPDI:
    NC_000009.12:121283703:T:C
    Gene:
    GSN (Varview), GSN-AS1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490460618 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:121284917 (GRCh38)
      9:124047195 (GRCh37)
      Canonical SPDI:
      NC_000009.12:121284916:C:T
      Gene:
      GSN (Varview), GSN-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490271198 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:121285264 (GRCh38)
        9:124047542 (GRCh37)
        Canonical SPDI:
        NC_000009.12:121285263:G:A
        Gene:
        GSN (Varview), GSN-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490203951 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          9:121286106 (GRCh38)
          9:124048384 (GRCh37)
          Canonical SPDI:
          NC_000009.12:121286105:T:C
          Gene:
          GSN (Varview), GSN-AS1 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency
          MAF:
          C=0.000008/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1489550396 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:121282626 (GRCh38)
            9:124044904 (GRCh37)
            Canonical SPDI:
            NC_000009.12:121282625:A:G
            Gene:
            GSN (Varview), GSN-AS1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000224/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000446/2 (Estonian)
            HGVS:
            6.

            rs1489258858 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              9:121284798 (GRCh38)
              9:124047076 (GRCh37)
              Canonical SPDI:
              NC_000009.12:121284797:A:C
              Gene:
              GSN (Varview), GSN-AS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488913969 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                9:121286984 (GRCh38)
                9:124049262 (GRCh37)
                Canonical SPDI:
                NC_000009.12:121286983:G:T
                Gene:
                GSN (Varview), GSN-AS1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488792266 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  9:121286353 (GRCh38)
                  9:124048631 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:121286352:G:T
                  Gene:
                  GSN (Varview), GSN-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_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:
                  9.

                  rs1488501087 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:121286261 (GRCh38)
                    9:124048539 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:121286260:C:T
                    Gene:
                    GSN (Varview), GSN-AS1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_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:
                    10.

                    rs1487989533 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      9:121280420 (GRCh38)
                      9:124042698 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:121280419:C:A,NC_000009.12:121280419:C:T
                      Gene:
                      GSN (Varview), GSN-AS1 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000054/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      A=0.000223/1 (Estonian)
                      HGVS:
                      11.

                      rs1486262533 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:121281300 (GRCh38)
                        9:124043578 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:121281299:A:G
                        Gene:
                        GSN (Varview), GSN-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1484884765 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          9:121285886 (GRCh38)
                          9:124048164 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:121285885:G:C
                          Gene:
                          GSN (Varview), GSN-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1484617181 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            9:121281785 (GRCh38)
                            9:124044063 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:121281784:A:C
                            Gene:
                            GSN (Varview), GSN-AS1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000007/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1484071050 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              9:121281218 (GRCh38)
                              9:124043496 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:121281217:C:A
                              Gene:
                              GSN (Varview), GSN-AS1 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1483793409 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                9:121282396 (GRCh38)
                                9:124044674 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:121282395:G:A,NC_000009.12:121282395:G:T
                                Gene:
                                GSN (Varview), GSN-AS1 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1482429718 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  9:121283848 (GRCh38)
                                  9:124046126 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:121283847:A:T
                                  Gene:
                                  GSN (Varview), GSN-AS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482062110 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    9:121287081 (GRCh38)
                                    9:124049359 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:121287080:C:A,NC_000009.12:121287080:C:T
                                    Gene:
                                    GSN (Varview), GSN-AS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1481836582 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:121283361 (GRCh38)
                                      9:124045639 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:121283360:G:A
                                      Gene:
                                      GSN (Varview), GSN-AS1 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481600454 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:121281824 (GRCh38)
                                        9:124044102 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:121281823:T:C
                                        Gene:
                                        GSN (Varview), GSN-AS1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1481552946 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->AGTCATGG [Show Flanks]
                                          Chromosome:
                                          9:121282024 (GRCh38)
                                          9:124044303 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:121282024:GAGTCATGG:GAGTCATGGAGTCATGG
                                          Gene:
                                          GSN (Varview), GSN-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          GAGTCATG=0.000007/1 (GnomAD_exomes)
                                          HGVS:

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