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Links from Nucleotide

Items: 1 to 20 of 287

1.

rs1484650904 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    21:45974324 (GRCh38)
    21:47394238 (GRCh37)
    Canonical SPDI:
    NC_000021.9:45974321:TTTT:TT
    Gene:
    LOC101928796 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1482314856 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      21:45974888 (GRCh38)
      21:47394802 (GRCh37)
      Canonical SPDI:
      NC_000021.9:45974887:G:A,NC_000021.9:45974887:G:C
      Gene:
      LOC101928796 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.00007/1 (ALFA)
      HGVS:
      3.

      rs1480343069 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        21:45974183 (GRCh38)
        21:47394097 (GRCh37)
        Canonical SPDI:
        NC_000021.9:45974182:C:A
        Gene:
        LOC101928796 (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)
        A=0.000318/5 (TOMMO)
        HGVS:
        4.

        rs1474326416 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          21:45974170 (GRCh38)
          21:47394084 (GRCh37)
          Canonical SPDI:
          NC_000021.9:45974169:G:A
          Gene:
          LOC101928796 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1472918101 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            21:45973142 (GRCh38)
            21:47393056 (GRCh37)
            Canonical SPDI:
            NC_000021.9:45973141:CC:C
            Gene:
            LOC101928796 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            -=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1470657769 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              21:45973061 (GRCh38)
              21:47392975 (GRCh37)
              Canonical SPDI:
              NC_000021.9:45973060:C:G
              Gene:
              LOC101928796 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000029/4 (GnomAD)
              G=0.000038/10 (TOPMED)
              HGVS:
              7.

              rs1468490631 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                21:45974148 (GRCh38)
                21:47394062 (GRCh37)
                Canonical SPDI:
                NC_000021.9:45974147:G:A
                Gene:
                LOC101928796 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1468466728 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CTTCAC>- [Show Flanks]
                  Chromosome:
                  21:45974643 (GRCh38)
                  21:47394557 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:45974640:ACCTTCAC:AC
                  Gene:
                  LOC101928796 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AC=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1462061371 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    21:45974785 (GRCh38)
                    21:47394699 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:45974784:C:G
                    Gene:
                    LOC101928796 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1461826521 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      21:45972984 (GRCh38)
                      21:47392898 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:45972983:G:A
                      Gene:
                      LOC101928796 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1461045544 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        21:45974140 (GRCh38)
                        21:47394054 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:45974139:A:C
                        Gene:
                        LOC101928796 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1460442772 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          21:45974458 (GRCh38)
                          21:47394372 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:45974457:G:A
                          Gene:
                          LOC101928796 (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:
                          13.

                          rs1460220548 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            21:45974224 (GRCh38)
                            21:47394138 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:45974223:G:A
                            Gene:
                            LOC101928796 (Varview)
                            Functional Consequence:
                            non_coding_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:
                            14.

                            rs1456992832 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              21:45974593 (GRCh38)
                              21:47394507 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:45974592:G:A
                              Gene:
                              LOC101928796 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000054/1 (ALFA)
                              A=0.000011/3 (TOPMED)
                              A=0.000029/4 (GnomAD)
                              A=0.000223/1 (Estonian)
                              HGVS:
                              15.

                              rs1455184359 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                21:45974626 (GRCh38)
                                21:47394540 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:45974625:C:A
                                Gene:
                                LOC101928796 (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:
                                16.

                                rs1454381430 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  21:45974937 (GRCh38)
                                  21:47394851 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:45974936:A:C
                                  Gene:
                                  LOC101928796 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000042/11 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1454190418 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    21:45974737 (GRCh38)
                                    21:47394651 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:45974736:G:A
                                    Gene:
                                    LOC101928796 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1453259819 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      21:45974282 (GRCh38)
                                      21:47394196 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:45974281:C:T
                                      Gene:
                                      LOC101928796 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      C=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1453017193 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        21:45973068 (GRCh38)
                                        21:47392982 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:45973067:G:T
                                        Gene:
                                        LOC101928796 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1449362638 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          21:45973014 (GRCh38)
                                          21:47392928 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:45973013:C:G,NC_000021.9:45973013:C:T
                                          Gene:
                                          LOC101928796 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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