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Links from Gene

Items: 1 to 20 of 769

1.

rs1488840505 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:10625539 (GRCh38)
    3:10667224 (GRCh37)
    Canonical SPDI:
    NC_000003.12:10625538:C:T
    Gene:
    ATP2B2 (Varview), ATP2B2-IT2 (Varview)
    Functional Consequence:
    500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000019/5 (TOPMED)
    T=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1488542803 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:10625783 (GRCh38)
      3:10667468 (GRCh37)
      Canonical SPDI:
      NC_000003.12:10625782:T:C
      Gene:
      ATP2B2 (Varview), ATP2B2-IT2 (Varview)
      Functional Consequence:
      500B_downstream_variant,intron_variant,downstream_transcript_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:
      3.

      rs1488216043 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AG>- [Show Flanks]
        Chromosome:
        3:10626209 (GRCh38)
        3:10667894 (GRCh37)
        Canonical SPDI:
        NC_000003.12:10626202:AGAGAGAG:AGAGAG
        Gene:
        ATP2B2 (Varview), ATP2B2-IT2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        AGAGAG=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1488057683 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:10625881 (GRCh38)
          3:10667566 (GRCh37)
          Canonical SPDI:
          NC_000003.12:10625880:T:C
          Gene:
          ATP2B2 (Varview), ATP2B2-IT2 (Varview)
          Functional Consequence:
          500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1487561887 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:10625772 (GRCh38)
            3:10667457 (GRCh37)
            Canonical SPDI:
            NC_000003.12:10625771:T:C
            Gene:
            ATP2B2 (Varview), ATP2B2-IT2 (Varview)
            Functional Consequence:
            500B_downstream_variant,intron_variant,downstream_transcript_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)
            C=0.000342/1 (KOREAN)
            C=0.000546/1 (Korea1K)
            T=0.5/1 (SGDP_PRJ)
            HGVS:
            6.

            rs1487299419 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              3:10626560 (GRCh38)
              3:10668245 (GRCh37)
              Canonical SPDI:
              NC_000003.12:10626559:A:C
              Gene:
              ATP2B2 (Varview), ATP2B2-IT2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1485568384 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                3:10627830 (GRCh38)
                3:10669515 (GRCh37)
                Canonical SPDI:
                NC_000003.12:10627829:T:A
                Gene:
                ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000224/1 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1485344544 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:10628601 (GRCh38)
                  3:10670286 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:10628600:C:T
                  Gene:
                  ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000014/2 (GnomAD)
                  T=0.000038/10 (TOPMED)
                  HGVS:
                  9.

                  rs1485238870 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:10626511 (GRCh38)
                    3:10668196 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:10626510:G:A
                    Gene:
                    ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_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:
                    10.

                    rs1484606246 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      3:10628442 (GRCh38)
                      3:10670127 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:10628441:G:C
                      Gene:
                      ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1482065596 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:10625658 (GRCh38)
                        3:10667343 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:10625657:G:A
                        Gene:
                        ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant,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:
                        12.

                        rs1480137385 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          3:10627355 (GRCh38)
                          3:10669040 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:10627354:A:T
                          Gene:
                          ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1479680562 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:10627699 (GRCh38)
                            3:10669384 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:10627698:A:G
                            Gene:
                            ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_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.

                            rs1479315208 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:10626943 (GRCh38)
                              3:10668628 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:10626942:G:A
                              Gene:
                              ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                              HGVS:
                              15.

                              rs1478170776 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:10627418 (GRCh38)
                                3:10669103 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:10627417:G:A
                                Gene:
                                ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1477799702 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  3:10626287 (GRCh38)
                                  3:10667972 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:10626286:T:A
                                  Gene:
                                  ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1477321039 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:10626417 (GRCh38)
                                    3:10668102 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:10626416:C:T
                                    Gene:
                                    ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_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)
                                    T=0.000071/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1476166416 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      3:10626698 (GRCh38)
                                      3:10668383 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:10626697:T:A,NC_000003.12:10626697:T:G
                                      Gene:
                                      ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1474583435 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:10628433 (GRCh38)
                                        3:10670118 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:10628432:C:T
                                        Gene:
                                        ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1474198780 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          3:10627528 (GRCh38)
                                          3:10669213 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:10627527:C:A
                                          Gene:
                                          ATP2B2 (Varview), ATP2B2-IT2 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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