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Links from Nucleotide

Items: 1 to 20 of 143

1.

rs1490305675 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    6:41381610 (GRCh38)
    6:41349348 (GRCh37)
    Canonical SPDI:
    NC_000006.12:41381609:C:A
    Gene:
    LOC100505711 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000015/4 (TOPMED)
    A=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1480236372 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:41381927 (GRCh38)
      6:41349665 (GRCh37)
      Canonical SPDI:
      NC_000006.12:41381926:C:T
      Gene:
      LOC100505711 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1474569074 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        6:41381722 (GRCh38)
        6:41349460 (GRCh37)
        Canonical SPDI:
        NC_000006.12:41381721:G:T
        Gene:
        LOC100505711 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1460854670 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          6:41381868 (GRCh38)
          6:41349606 (GRCh37)
          Canonical SPDI:
          NC_000006.12:41381867:G:A,NC_000006.12:41381867:G:T
          Gene:
          LOC100505711 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1458244198 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:41381819 (GRCh38)
            6:41349557 (GRCh37)
            Canonical SPDI:
            NC_000006.12:41381818:A:G
            Gene:
            LOC100505711 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1449767102 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:41381763 (GRCh38)
              6:41349501 (GRCh37)
              Canonical SPDI:
              NC_000006.12:41381762:G:A
              Gene:
              LOC100505711 (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:
              7.

              rs1444720326 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                6:41383076 (GRCh38)
                6:41350815 (GRCh37)
                Canonical SPDI:
                NC_000006.12:41383076:T:TT
                Gene:
                LOC100505711 (Varview)
                Functional Consequence:
                upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TT=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1440461198 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:41381906 (GRCh38)
                  6:41349644 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:41381905:C:T
                  Gene:
                  LOC100505711 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1437337438 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    6:41381449 (GRCh38)
                    6:41349187 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:41381448:TTT:TT
                    Gene:
                    LOC100505711 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TT=0./0 (ALFA)
                    -=0.000021/3 (GnomAD)
                    -=0.00003/8 (TOPMED)
                    HGVS:
                    10.

                    rs1430733479 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:41381571 (GRCh38)
                      6:41349309 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:41381570:G:A
                      Gene:
                      LOC100505711 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1429564692 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:41381809 (GRCh38)
                        6:41349547 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:41381808:C:T
                        Gene:
                        LOC100505711 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        T=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1427167086 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          6:41381799 (GRCh38)
                          6:41349537 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:41381798:G:T
                          Gene:
                          LOC100505711 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1427080437 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            6:41381513 (GRCh38)
                            6:41349251 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:41381512:A:T
                            Gene:
                            LOC100505711 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1423638809 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              6:41381415 (GRCh38)
                              6:41349153 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:41381414:A:C
                              Gene:
                              LOC100505711 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1421835971 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:41381429 (GRCh38)
                                6:41349167 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:41381428:G:A
                                Gene:
                                LOC100505711 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1419241060 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  6:41381802 (GRCh38)
                                  6:41349540 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:41381801:G:A,NC_000006.12:41381801:G:T
                                  Gene:
                                  LOC100505711 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1415731785 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    6:41381693 (GRCh38)
                                    6:41349431 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:41381692:C:G,NC_000006.12:41381692:C:T
                                    Gene:
                                    LOC100505711 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000042/11 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1407917448 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      6:41382061 (GRCh38)
                                      6:41349799 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:41382060:C:G,NC_000006.12:41382060:C:T
                                      Gene:
                                      LOC100505711 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000038/10 (TOPMED)
                                      G=0.00006/1 (TOMMO)
                                      T=0.000071/10 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1404158982 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:41381539 (GRCh38)
                                        6:41349277 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:41381538:A:G
                                        Gene:
                                        LOC100505711 (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:
                                        20.

                                        rs1403273149 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:41381768 (GRCh38)
                                          6:41349506 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:41381767:G:A
                                          Gene:
                                          LOC100505711 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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