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Items: 1 to 20 of 2760

1.

rs1491114110 has merged into rs59001268 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>-,GTGT [Show Flanks]
    Chromosome:
    7:101168019 (GRCh38)
    7:100811300 (GRCh37)
    Canonical SPDI:
    NC_000007.14:101168017:TGT:T,NC_000007.14:101168017:TGT:TGTGT
    Gene:
    VGF (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGT=0./0 (ALFA)
    -=0.0195/11 (NorthernSweden)
    -=0.11326/11316 (GnomAD)
    -=0.38464/5943 (TOMMO)
    HGVS:
    2.

    rs1490960347 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      7:101170362 (GRCh38)
      7:100813643 (GRCh37)
      Canonical SPDI:
      NC_000007.14:101170361:C:A,NC_000007.14:101170361:C:T
      Gene:
      VGF (Varview), NAT16 (Varview)
      Functional Consequence:
      downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490735125 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        7:101162916 (GRCh38)
        7:100806197 (GRCh37)
        Canonical SPDI:
        NC_000007.14:101162915:A:G
        Gene:
        VGF (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.00034/4 (ALFA)
        G=0.00011/2 (TOMMO)
        G=0.03322/96 (KOREAN)
        HGVS:
        4.

        rs1490569888 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          7:101162406 (GRCh38)
          7:100805687 (GRCh37)
          Canonical SPDI:
          NC_000007.14:101162405:C:T
          Gene:
          VGF (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          5.
          6.

          rs1490495982 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            7:101162139 (GRCh38)
            7:100805420 (GRCh37)
            Canonical SPDI:
            NC_000007.14:101162138:A:T
            Gene:
            VGF (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            7.

            rs1489848015 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              7:101169798 (GRCh38)
              7:100813079 (GRCh37)
              Canonical SPDI:
              NC_000007.14:101169797:G:C
              Gene:
              VGF (Varview)
              Functional Consequence:
              intron_variant,genic_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:
              8.

              rs1489716348 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:101168274 (GRCh38)
                7:100811555 (GRCh37)
                Canonical SPDI:
                NC_000007.14:101168273:G:A
                Gene:
                VGF (Varview)
                Functional Consequence:
                intron_variant,genic_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:
                9.

                rs1489605148 has merged into rs376663461 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CTCT>-,CT,CTCTCT [Show Flanks]
                  Chromosome:
                  7:101171379 (GRCh38)
                  7:100814660 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCT,NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000007.14:101171368:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT
                  Gene:
                  VGF (Varview), NAT16 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CTCTCTCTCTCT=0./0 (ALFA)
                  CT=0.00016/1 (1000Genomes)
                  HGVS:
                  11.

                  rs1488785102 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    7:101167504 (GRCh38)
                    7:100810785 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:101167503:G:C
                    Gene:
                    VGF (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    12.

                    rs1488552721 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:101167110 (GRCh38)
                      7:100810391 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:101167109:C:T
                      Gene:
                      VGF (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_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:
                      13.

                      rs1488155021 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        7:101165836 (GRCh38)
                        7:100809117 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:101165835:G:A,NC_000007.14:101165835:G:C
                        Gene:
                        VGF (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        14.

                        rs1488082720 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          7:101164875 (GRCh38)
                          7:100808156 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:101164874:A:G
                          Gene:
                          VGF (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          15.

                          rs1487872454 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            7:101169821 (GRCh38)
                            7:100813102 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:101169820:A:G
                            Gene:
                            VGF (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000014/2 (GnomAD)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            18.

                            rs1486879834 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:101171240 (GRCh38)
                              7:100814521 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:101171239:G:A
                              Gene:
                              VGF (Varview), NAT16 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              A=0.000342/1 (KOREAN)
                              A=0.000779/13 (TOMMO)
                              HGVS:
                              19.

                              rs1486824126 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:101169881 (GRCh38)
                                7:100813162 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:101169880:A:G
                                Gene:
                                VGF (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000224/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000223/1 (Estonian)
                                HGVS:
                                20.

                                rs1486815331 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  7:101165758 (GRCh38)
                                  7:100809039 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:101165757:A:T
                                  Gene:
                                  VGF (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:

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