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Links from Nucleotide

Items: 1 to 20 of 210

1.

rs1487599417 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    G>- [Show Flanks]
    Chromosome:
    2:64251968 (GRCh38)
    2:64479102 (GRCh37)
    Canonical SPDI:
    NC_000002.12:64251967:G:
    Gene:
    LOC100507006 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000021/3 (GnomAD)
    HGVS:
    2.

    rs1484246064 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      2:64251119 (GRCh38)
      2:64478253 (GRCh37)
      Canonical SPDI:
      NC_000002.12:64251118:C:A
      Gene:
      LOC100507006 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1484238497 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        2:64251866 (GRCh38)
        2:64479000 (GRCh37)
        Canonical SPDI:
        NC_000002.12:64251865:C:G
        Gene:
        LOC100507006 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1480021421 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          2:64252528 (GRCh38)
          2:64479662 (GRCh37)
          Canonical SPDI:
          NC_000002.12:64252527:C:G
          Gene:
          LOC100507006 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1478771300 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            2:64251840 (GRCh38)
            2:64478974 (GRCh37)
            Canonical SPDI:
            NC_000002.12:64251839:T:A
            Gene:
            LOC100507006 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1474568471 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:64229557 (GRCh38)
              2:64456691 (GRCh37)
              Canonical SPDI:
              NC_000002.12:64229556:G:A
              Gene:
              LOC100507006 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              A=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1473431564 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                2:64251916 (GRCh38)
                2:64479050 (GRCh37)
                Canonical SPDI:
                NC_000002.12:64251915:T:G
                Gene:
                LOC100507006 (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:
                8.

                rs1473226180 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:64251231 (GRCh38)
                  2:64478365 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:64251230:C:T
                  Gene:
                  LOC100507006 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1472687751 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    2:64252500 (GRCh38)
                    2:64479634 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:64252499:A:T
                    Gene:
                    LOC100507006 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (GnomAD)
                    HGVS:
                    10.

                    rs1466217230 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:64251221 (GRCh38)
                      2:64478355 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:64251220:G:A
                      Gene:
                      LOC100507006 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1461672653 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        2:64228457 (GRCh38)
                        2:64455591 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:64228456:A:C,NC_000002.12:64228456:A:G
                        Gene:
                        LOC100507006 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.00007/1 (ALFA)
                        G=0.00022/1 (Estonian)
                        HGVS:
                        12.

                        rs1457709444 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:64252429 (GRCh38)
                          2:64479563 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:64252428:C:T
                          Gene:
                          LOC100507006 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1450800125 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CT>- [Show Flanks]
                            Chromosome:
                            2:64251939 (GRCh38)
                            2:64479073 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:64251934:CTCTCT:CTCT
                            Gene:
                            LOC100507006 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CTCT=0./0 (ALFA)
                            -=0.000011/3 (TOPMED)
                            -=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1446926707 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:64251270 (GRCh38)
                              2:64478404 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:64251269:T:C
                              Gene:
                              LOC100507006 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1445779222 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:64229555 (GRCh38)
                                2:64456689 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:64229554:C:T
                                Gene:
                                LOC100507006 (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=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1443214949 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:64228423 (GRCh38)
                                  2:64455557 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:64228422:G:A
                                  Gene:
                                  LOC100507006 (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:
                                  17.

                                  rs1438995998 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    2:64252465 (GRCh38)
                                    2:64479599 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:64252464:G:A,NC_000002.12:64252464:G:C,NC_000002.12:64252464:G:T
                                    Gene:
                                    LOC100507006 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1435935220 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:64251914 (GRCh38)
                                      2:64479048 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:64251913:T:C
                                      Gene:
                                      LOC100507006 (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:
                                      19.

                                      rs1435774105 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:64229614 (GRCh38)
                                        2:64456748 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:64229613:A:G
                                        Gene:
                                        LOC100507006 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000015/4 (TOPMED)
                                        G=0.000029/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1427560860 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          2:64251959 (GRCh38)
                                          2:64479093 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:64251958:A:C
                                          Gene:
                                          LOC100507006 (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:

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