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Items: 1 to 20 of 3194

1.

rs1490874783 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:173446348 (GRCh38)
    2:174311076 (GRCh37)
    Canonical SPDI:
    NC_000002.12:173446347:A:G
    Gene:
    LOC105373744 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490658623 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:173446885 (GRCh38)
      2:174311613 (GRCh37)
      Canonical SPDI:
      NC_000002.12:173446884:T:C
      Gene:
      LOC105373744 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1490512586 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:173444004 (GRCh38)
        2:174308732 (GRCh37)
        Canonical SPDI:
        NC_000002.12:173444003:T:C
        Gene:
        LOC105373744 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490383700 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:173445782 (GRCh38)
          2:174310510 (GRCh37)
          Canonical SPDI:
          NC_000002.12:173445781:A:G
          Gene:
          LOC105373744 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1490289521 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:173443085 (GRCh38)
            2:174307813 (GRCh37)
            Canonical SPDI:
            NC_000002.12:173443084:C:T
            Gene:
            LOC105373744 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            T=0.000106/2 (TOMMO)
            HGVS:
            6.

            rs1489964274 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              2:173440510 (GRCh38)
              2:174305238 (GRCh37)
              Canonical SPDI:
              NC_000002.12:173440509:C:G,NC_000002.12:173440509:C:T
              Gene:
              LOC105373744 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489771259 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                2:173436194 (GRCh38)
                2:174300922 (GRCh37)
                Canonical SPDI:
                NC_000002.12:173436193:G:C
                Gene:
                LOC105373744 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489405890 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:173437555 (GRCh38)
                  2:174302283 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:173437554:G:A
                  Gene:
                  LOC105373744 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  A=0.000021/3 (GnomAD)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1489293221 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:173437529 (GRCh38)
                    2:174302257 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:173437528:G:A
                    Gene:
                    LOC105373744 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489285927 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:173441005 (GRCh38)
                      2:174305733 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:173441004:G:A
                      Gene:
                      LOC105373744 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489077883 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        2:173444126 (GRCh38)
                        2:174308854 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:173444125:C:G
                        Gene:
                        LOC105373744 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489057746 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:173448099 (GRCh38)
                          2:174312827 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:173448098:C:T
                          Gene:
                          LOC105373744 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000023/6 (TOPMED)
                          T=0.000156/1 (1000Genomes)
                          HGVS:
                          13.

                          rs1488831101 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            2:173438366 (GRCh38)
                            2:174303094 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:173438365:T:G
                            Gene:
                            LOC105373744 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488809880 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              T>G
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1488420254 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:173446804 (GRCh38)
                                2:174311532 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:173446803:G:A
                                Gene:
                                LOC105373744 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488300820 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:173441223 (GRCh38)
                                  2:174305951 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:173441222:C:A
                                  Gene:
                                  LOC105373744 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487974395 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:173445697 (GRCh38)
                                    2:174310425 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:173445696:G:A
                                    Gene:
                                    LOC105373744 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000014/2 (GnomAD)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487924780 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:173446354 (GRCh38)
                                      2:174311082 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:173446353:G:A
                                      Gene:
                                      LOC105373744 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487786799 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:173438424 (GRCh38)
                                        2:174303152 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:173438423:G:A
                                        Gene:
                                        LOC105373744 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000057/8 (GnomAD)
                                        A=0.000087/23 (TOPMED)
                                        A=0.000312/2 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1487553409 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:173442578 (GRCh38)
                                          2:174307306 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:173442577:A:G
                                          Gene:
                                          LOC105373744 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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