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Items: 1 to 20 of 3793

1.

rs1490971304 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    1:59785056 (GRCh38)
    1:60250728 (GRCh37)
    Canonical SPDI:
    NC_000001.11:59785055:T:G
    Gene:
    LOC101926944 (Varview), LOC105378758 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490936410 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      1:59784005 (GRCh38)
      1:60249677 (GRCh37)
      Canonical SPDI:
      NC_000001.11:59784004:A:T
      Gene:
      LOC101926944 (Varview), LOC105378758 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490753759 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:59789294 (GRCh38)
        1:60254966 (GRCh37)
        Canonical SPDI:
        NC_000001.11:59789293:G:A
        Gene:
        LOC101926944 (Varview), LOC105378758 (Varview)
        Functional Consequence:
        500B_downstream_variant,intron_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490171668 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:59774954 (GRCh38)
          1:60240626 (GRCh37)
          Canonical SPDI:
          NC_000001.11:59774953:T:C
          Gene:
          LOC101926944 (Varview), LOC105378758 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1489997242 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:59775450 (GRCh38)
            1:60241122 (GRCh37)
            Canonical SPDI:
            NC_000001.11:59775449:T:C
            Gene:
            LOC101926944 (Varview), LOC105378758 (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:
            6.

            rs1489789437 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              1:59783502 (GRCh38)
              1:60249174 (GRCh37)
              Canonical SPDI:
              NC_000001.11:59783501:GGGG:GGG
              Gene:
              LOC101926944 (Varview), LOC105378758 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              GGG=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1489689606 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:59787067 (GRCh38)
                1:60252739 (GRCh37)
                Canonical SPDI:
                NC_000001.11:59787066:C:T
                Gene:
                LOC101926944 (Varview), LOC105378758 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489294710 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:59783285 (GRCh38)
                  1:60248957 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:59783284:G:T
                  Gene:
                  LOC101926944 (Varview), LOC105378758 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488987912 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    1:59777992 (GRCh38)
                    1:60243664 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:59777991:C:G
                    Gene:
                    LOC101926944 (Varview), LOC105378758 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488847699 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:59785690 (GRCh38)
                      1:60251362 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:59785689:A:G
                      Gene:
                      LOC101926944 (Varview), LOC105378758 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000023/6 (TOPMED)
                      G=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1488656412 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:59773747 (GRCh38)
                        1:60239419 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:59773746:G:A
                        Gene:
                        LOC101926944 (Varview), LOC105378758 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0./0 (KOREAN)
                        A=0.00003/8 (TOPMED)
                        A=0.000035/1 (TOMMO)
                        A=0.001092/2 (Korea1K)
                        HGVS:
                        12.

                        rs1488629931 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:59779166 (GRCh38)
                          1:60244838 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:59779165:C:G
                          Gene:
                          LOC101926944 (Varview), LOC105378758 (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:
                          13.

                          rs1488545439 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            1:59770795 (GRCh38)
                            1:60236467 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:59770794:T:
                            Gene:
                            LOC101926944 (Varview), LOC105378758 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1487834106 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:59784479 (GRCh38)
                              1:60250151 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:59784478:G:T
                              Gene:
                              LOC101926944 (Varview), LOC105378758 (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)
                              HGVS:
                              15.

                              rs1487660558 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:59782131 (GRCh38)
                                1:60247803 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:59782130:T:C
                                Gene:
                                LOC101926944 (Varview), LOC105378758 (Varview)
                                Functional Consequence:
                                intron_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:
                                16.

                                rs1487342766 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:59780885 (GRCh38)
                                  1:60246557 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:59780884:T:C
                                  Gene:
                                  LOC101926944 (Varview), LOC105378758 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487312700 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    1:59786999 (GRCh38)
                                    1:60252671 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:59786998:T:C,NC_000001.11:59786998:T:G
                                    Gene:
                                    LOC101926944 (Varview), LOC105378758 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486627453 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      1:59787376 (GRCh38)
                                      1:60253048 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:59787375:A:C
                                      Gene:
                                      LOC101926944 (Varview), LOC105378758 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486331568 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        1:59788522 (GRCh38)
                                        1:60254194 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:59788521:A:C
                                        Gene:
                                        LOC101926944 (Varview), LOC105378758 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486208720 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:59777318 (GRCh38)
                                          1:60242990 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:59777317:T:C
                                          Gene:
                                          LOC101926944 (Varview), LOC105378758 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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