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Links from Nucleotide

Items: 1 to 20 of 228

1.

rs1488834895 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    21:33977477 (GRCh38)
    21:35349778 (GRCh37)
    Canonical SPDI:
    NC_000021.9:33977476:G:A
    Gene:
    LOC101928126 (Varview)
    Functional Consequence:
    non_coding_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:
    2.

    rs1488155621 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      21:33976989 (GRCh38)
      21:35349290 (GRCh37)
      Canonical SPDI:
      NC_000021.9:33976988:G:A
      Gene:
      LOC101928126 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.00013/2 (ALFA)
      A=0.00045/2 (Estonian)
      HGVS:
      3.

      rs1483632227 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        21:33976781 (GRCh38)
        21:35349082 (GRCh37)
        Canonical SPDI:
        NC_000021.9:33976780:C:T
        Gene:
        LOC101928126 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1483208120 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          21:33977323 (GRCh38)
          21:35349624 (GRCh37)
          Canonical SPDI:
          NC_000021.9:33977322:T:C
          Gene:
          LOC101928126 (Varview)
          Functional Consequence:
          non_coding_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:
          5.

          rs1479090270 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            21:33976411 (GRCh38)
            21:35348712 (GRCh37)
            Canonical SPDI:
            NC_000021.9:33976410:C:T
            Gene:
            LOC101928126 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000071/1 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1478859399 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              21:33977037 (GRCh38)
              21:35349338 (GRCh37)
              Canonical SPDI:
              NC_000021.9:33977036:T:G
              Gene:
              LOC101928126 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              G=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1478397340 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                21:33977576 (GRCh38)
                21:35349877 (GRCh37)
                Canonical SPDI:
                NC_000021.9:33977575:T:G
                Gene:
                LOC101928126 (Varview)
                Functional Consequence:
                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:
                8.

                rs1476764458 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  21:33977062 (GRCh38)
                  21:35349363 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:33977061:G:A
                  Gene:
                  LOC101928126 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.00003/8 (TOPMED)
                  A=0.000043/6 (GnomAD)
                  HGVS:
                  9.

                  rs1467068054 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    21:33977659 (GRCh38)
                    21:35349960 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:33977658:C:A
                    Gene:
                    LOC101928126 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000094/1 (ALFA)
                    A=0.000015/4 (TOPMED)
                    A=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1465433793 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      21:33977259 (GRCh38)
                      21:35349560 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:33977258:C:G
                      Gene:
                      LOC101928126 (Varview)
                      Functional Consequence:
                      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:
                      11.

                      rs1460457883 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        21:33977150 (GRCh38)
                        21:35349451 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:33977149:A:G
                        Gene:
                        LOC101928126 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1459446012 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          21:33977561 (GRCh38)
                          21:35349862 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:33977560:C:A,NC_000021.9:33977560:C:G
                          Gene:
                          LOC101928126 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1458982573 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            21:33976802 (GRCh38)
                            21:35349103 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:33976801:A:G
                            Gene:
                            LOC101928126 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1458654912 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              21:33977028 (GRCh38)
                              21:35349329 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:33977027:A:G
                              Gene:
                              LOC101928126 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1453579860 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                21:33977584 (GRCh38)
                                21:35349885 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:33977583:C:T
                                Gene:
                                LOC101928126 (Varview)
                                Functional Consequence:
                                non_coding_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:
                                16.

                                rs1449367093 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  21:33977219 (GRCh38)
                                  21:35349520 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:33977218:G:C,NC_000021.9:33977218:G:T
                                  Gene:
                                  LOC101928126 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1448079605 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    21:33976748 (GRCh38)
                                    21:35349049 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:33976747:A:T
                                    Gene:
                                    LOC101928126 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000043/6 (GnomAD)
                                    T=0.000045/12 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1444845744 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      21:33976403 (GRCh38)
                                      21:35348704 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:33976402:C:G,NC_000021.9:33976402:C:T
                                      Gene:
                                      LOC101928126 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      C=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1440375056 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AG>- [Show Flanks]
                                        Chromosome:
                                        21:33976383 (GRCh38)
                                        21:35348684 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:33976382:AG:
                                        Gene:
                                        LOC101928126 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1439974195 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          21:33977289 (GRCh38)
                                          21:35349590 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:33977288:A:G
                                          Gene:
                                          LOC101928126 (Varview)
                                          Functional Consequence:
                                          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:

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