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Links from Nucleotide

Items: 1 to 20 of 140

1.

rs1489129632 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    5:133914852 (GRCh38)
    5:133250543 (GRCh37)
    Canonical SPDI:
    NC_000005.10:133914851:G:T
    Gene:
    WSPAR (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1480393684 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      5:133913876 (GRCh38)
      5:133249567 (GRCh37)
      Canonical SPDI:
      NC_000005.10:133913875:C:T
      Gene:
      WSPAR (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1460067082 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        5:133917103 (GRCh38)
        5:133252794 (GRCh37)
        Canonical SPDI:
        NC_000005.10:133917102:C:A
        Gene:
        WSPAR (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:
        4.

        rs1449479250 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          5:133917094 (GRCh38)
          5:133252785 (GRCh37)
          Canonical SPDI:
          NC_000005.10:133917093:G:A,NC_000005.10:133917093:G:C
          Gene:
          WSPAR (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          A=0.000014/2 (GnomAD)
          C=0.001094/2 (Korea1K)
          HGVS:
          5.

          rs1436836090 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            5:133913682 (GRCh38)
            5:133249373 (GRCh37)
            Canonical SPDI:
            NC_000005.10:133913681:C:G
            Gene:
            WSPAR (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1433770740 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:133914845 (GRCh38)
              5:133250536 (GRCh37)
              Canonical SPDI:
              NC_000005.10:133914844:C:T
              Gene:
              WSPAR (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1423801771 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:133913860 (GRCh38)
                5:133249551 (GRCh37)
                Canonical SPDI:
                NC_000005.10:133913859:A:G
                Gene:
                WSPAR (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.

                rs1415788422 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:133913874 (GRCh38)
                  5:133249565 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:133913873:C:T
                  Gene:
                  WSPAR (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000045/12 (TOPMED)
                  T=0.000057/8 (GnomAD)
                  HGVS:
                  9.

                  rs1413510487 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:133913784 (GRCh38)
                    5:133249475 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:133913783:T:C
                    Gene:
                    WSPAR (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:
                    10.

                    rs1403792418 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      5:133917205 (GRCh38)
                      5:133252896 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:133917204:T:C,NC_000005.10:133917204:T:G
                      Gene:
                      WSPAR (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1399503590 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        5:133914840 (GRCh38)
                        5:133250531 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:133914839:G:T
                        Gene:
                        WSPAR (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=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1371706407 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          5:133913935 (GRCh38)
                          5:133249626 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:133913934:A:G,NC_000005.10:133913934:A:T
                          Gene:
                          WSPAR (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1361652946 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            5:133914842 (GRCh38)
                            5:133250533 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:133914841:C:T
                            Gene:
                            WSPAR (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000015/4 (TOPMED)
                            T=0.004717/1 (Vietnamese)
                            HGVS:
                            14.

                            rs1361042611 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              5:133917195 (GRCh38)
                              5:133252886 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:133917194:G:A
                              Gene:
                              WSPAR (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              HGVS:
                              15.

                              rs1358266059 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                5:133913883 (GRCh38)
                                5:133249574 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:133913882:T:G
                                Gene:
                                WSPAR (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1357079668 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:133914916 (GRCh38)
                                  5:133250607 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:133914915:C:T
                                  Gene:
                                  WSPAR (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1354952646 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    5:133917269 (GRCh38)
                                    5:133252960 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:133917268:G:C
                                    Gene:
                                    WSPAR (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:
                                    18.

                                    rs1354252224 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:133913919 (GRCh38)
                                      5:133249610 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:133913918:C:T
                                      Gene:
                                      WSPAR (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000019/5 (TOPMED)
                                      T=0.000043/6 (GnomAD)
                                      T=0.000071/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1353883537 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:133917262 (GRCh38)
                                        5:133252953 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:133917261:T:C
                                        Gene:
                                        WSPAR (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:
                                        20.

                                        rs1341501258 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:133914896 (GRCh38)
                                          5:133250587 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:133914895:A:G
                                          Gene:
                                          WSPAR (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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