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Links from Nucleotide

Items: 1 to 20 of 100

1.

rs1488076233 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    3:156215738 (GRCh38)
    3:155933527 (GRCh37)
    Canonical SPDI:
    NC_000003.12:156215737:C:A,NC_000003.12:156215737:C:T
    Gene:
    KCNAB1 (Varview), KCNAB1-AS2 (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)
    HGVS:
    2.

    rs1485916863 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      3:156227719 (GRCh38)
      3:155945508 (GRCh37)
      Canonical SPDI:
      NC_000003.12:156227718:C:G,NC_000003.12:156227718:C:T
      Gene:
      KCNAB1 (Varview), KCNAB1-AS2 (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)
      G=0.00055/1 (Korea1K)
      G=0.00074/12 (TOMMO)
      G=0.00103/3 (KOREAN)
      HGVS:
      3.

      rs1477567952 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        3:156216948 (GRCh38)
        3:155934737 (GRCh37)
        Canonical SPDI:
        NC_000003.12:156216947:A:G
        Gene:
        KCNAB1 (Varview), KCNAB1-AS2 (Varview)
        Functional Consequence:
        non_coding_transcript_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:
        4.

        rs1475909186 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          3:156215716 (GRCh38)
          3:155933505 (GRCh37)
          Canonical SPDI:
          NC_000003.12:156215715:A:C
          Gene:
          KCNAB1 (Varview), KCNAB1-AS2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,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)
          C=0.000546/1 (Korea1K)
          C=0.001486/25 (TOMMO)
          HGVS:
          5.

          rs1472058656 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            3:156227702 (GRCh38)
            3:155945491 (GRCh37)
            Canonical SPDI:
            NC_000003.12:156227701:T:G
            Gene:
            KCNAB1 (Varview), KCNAB1-AS2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_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:
            6.

            rs1456392162 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:156227776 (GRCh38)
              3:155945565 (GRCh37)
              Canonical SPDI:
              NC_000003.12:156227775:C:T
              Gene:
              KCNAB1 (Varview), KCNAB1-AS2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1453844221 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                3:156227727 (GRCh38)
                3:155945516 (GRCh37)
                Canonical SPDI:
                NC_000003.12:156227726:C:A,NC_000003.12:156227726:C:G
                Gene:
                KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1431115966 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  3:156215672 (GRCh38)
                  3:155933461 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:156215671:C:A
                  Gene:
                  KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1429454270 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    3:156227709 (GRCh38)
                    3:155945498 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:156227708:G:A,NC_000003.12:156227708:G:T
                    Gene:
                    KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1423626104 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      3:156215715 (GRCh38)
                      3:155933504 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:156215714:C:A,NC_000003.12:156215714:C:T
                      Gene:
                      KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1418485228 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:156215570 (GRCh38)
                        3:155933359 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:156215569:A:G
                        Gene:
                        KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1413874874 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:156227693 (GRCh38)
                          3:155945482 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:156227692:T:C
                          Gene:
                          KCNAB1 (Varview), KCNAB1-AS2 (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:
                          13.

                          rs1406274546 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            3:156227779 (GRCh38)
                            3:155945568 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:156227778:T:A
                            Gene:
                            KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1396116643 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              3:156216992 (GRCh38)
                              3:155934781 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:156216991:A:T
                              Gene:
                              KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.0002/1 (ALFA)
                              T=0.0002/1 (Estonian)
                              HGVS:
                              15.

                              rs1382681810 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                3:156227770 (GRCh38)
                                3:155945559 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:156227769:A:T
                                Gene:
                                KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1376549052 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  3:156227795 (GRCh38)
                                  3:155945584 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:156227794:G:C
                                  Gene:
                                  KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000015/4 (TOPMED)
                                  C=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1375572141 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:156215698 (GRCh38)
                                    3:155933487 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:156215697:G:A
                                    Gene:
                                    KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1375137841 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      3:156215723 (GRCh38)
                                      3:155933512 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:156215722:T:G
                                      Gene:
                                      KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1353165835 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:156215635 (GRCh38)
                                        3:155933424 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:156215634:A:G
                                        Gene:
                                        KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1345608244 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:156215657 (GRCh38)
                                          3:155933446 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:156215656:C:T
                                          Gene:
                                          KCNAB1 (Varview), KCNAB1-AS2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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