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Links from Nucleotide

Items: 1 to 20 of 1213

1.

rs1490110749 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    5:109320595 (GRCh38)
    5:108656296 (GRCh37)
    Canonical SPDI:
    NC_000005.10:109320594:A:G
    Gene:
    LOC285638 (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:
    2.

    rs1489714249 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      5:109320141 (GRCh38)
      5:108655842 (GRCh37)
      Canonical SPDI:
      NC_000005.10:109320140:T:C
      Gene:
      LOC285638 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1488422217 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        5:109319876 (GRCh38)
        5:108655577 (GRCh37)
        Canonical SPDI:
        NC_000005.10:109319875:C:G,NC_000005.10:109319875:C:T
        Gene:
        LOC285638 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000084/1 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1486936690 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          5:109323134 (GRCh38)
          5:108658835 (GRCh37)
          Canonical SPDI:
          NC_000005.10:109323133:TT:T
          Gene:
          LOC285638 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          TT=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1486816701 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            5:109326224 (GRCh38)
            5:108661925 (GRCh37)
            Canonical SPDI:
            NC_000005.10:109326223:C:A,NC_000005.10:109326223:C:T
            Gene:
            LOC285638 (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)
            T=0.000177/3 (TOMMO)
            HGVS:
            6.

            rs1486520312 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:109323539 (GRCh38)
              5:108659240 (GRCh37)
              Canonical SPDI:
              NC_000005.10:109323538:G:A
              Gene:
              LOC285638 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1486004997 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                5:109323546 (GRCh38)
                5:108659247 (GRCh37)
                Canonical SPDI:
                NC_000005.10:109323545:C:G
                Gene:
                LOC285638 (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.

                rs1485584128 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  5:109325688 (GRCh38)
                  5:108661389 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:109325687:A:C
                  Gene:
                  LOC285638 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1485476061 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    5:109325007 (GRCh38)
                    5:108660708 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:109325006:C:G
                    Gene:
                    LOC285638 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1485166338 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GAGAT>- [Show Flanks]
                      Chromosome:
                      5:109237607 (GRCh38)
                      5:108573308 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:109237604:ATGAGAT:AT
                      Gene:
                      LOC285638 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AT=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484622263 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        5:109237226 (GRCh38)
                        5:108572927 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:109237225:G:T
                        Gene:
                        LOC285638 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1483927997 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:109325581 (GRCh38)
                          5:108661282 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:109325580:C:T
                          Gene:
                          LOC285638 (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:
                          13.

                          rs1483095256 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            5:109237939 (GRCh38)
                            5:108573640 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:109237938:T:A,NC_000005.10:109237938:T:C
                            Gene:
                            LOC285638 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1482526297 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              G>- [Show Flanks]
                              Chromosome:
                              5:109326334 (GRCh38)
                              5:108662035 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:109326333:GGG:GG
                              Gene:
                              LOC285638 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              GG=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1482252775 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                5:109323402 (GRCh38)
                                5:108659103 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:109323401:C:A,NC_000005.10:109323401:C:T
                                Gene:
                                LOC285638 (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:
                                16.

                                rs1480988817 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  5:109320237 (GRCh38)
                                  5:108655938 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:109320236:C:G,NC_000005.10:109320236:C:T
                                  Gene:
                                  LOC285638 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1480281650 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    5:109324488 (GRCh38)
                                    5:108660189 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:109324487:G:A,NC_000005.10:109324487:G:T
                                    Gene:
                                    LOC285638 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1479250728 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      5:109324987 (GRCh38)
                                      5:108660688 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:109324986:T:C
                                      Gene:
                                      LOC285638 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478139073 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:109237887 (GRCh38)
                                        5:108573588 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:109237886:T:C
                                        Gene:
                                        LOC285638 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1477146535 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          5:109323009 (GRCh38)
                                          5:108658710 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:109323008:C:
                                          Gene:
                                          LOC285638 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.00033/5 (ALFA)
                                          -=0.00005/7 (GnomAD)
                                          -=0.001116/5 (Estonian)
                                          HGVS:

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