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Links from Nucleotide

Items: 1 to 20 of 701

1.

rs1490862145 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:4996746 (GRCh38)
    7:5036377 (GRCh37)
    Canonical SPDI:
    NC_000007.14:4996745:G:A
    Gene:
    RNF216P1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1489077385 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      7:4997780 (GRCh38)
      7:5037411 (GRCh37)
      Canonical SPDI:
      NC_000007.14:4997779:T:A,NC_000007.14:4997779:T:C
      Gene:
      RNF216P1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000026/7 (TOPMED)
      C=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1488748261 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        7:4997818 (GRCh38)
        7:5037449 (GRCh37)
        Canonical SPDI:
        NC_000007.14:4997817:T:C
        Gene:
        RNF216P1 (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=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487682984 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          7:4974130 (GRCh38)
          7:5013761 (GRCh37)
          Canonical SPDI:
          NC_000007.14:4974129:C:G,NC_000007.14:4974129:C:T
          Gene:
          RNF216P1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1485476989 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            7:4996622 (GRCh38)
            7:5036253 (GRCh37)
            Canonical SPDI:
            NC_000007.14:4996621:G:A,NC_000007.14:4996621:G:T
            Gene:
            RNF216P1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000264/4 (ALFA)
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1485358428 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:4989175 (GRCh38)
              7:5028806 (GRCh37)
              Canonical SPDI:
              NC_000007.14:4989174:A:G
              Gene:
              RNF216P1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1484807085 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                7:4974004 (GRCh38)
                7:5013635 (GRCh37)
                Canonical SPDI:
                NC_000007.14:4974003:T:C
                Gene:
                RNF216P1 (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:
                8.

                rs1483391992 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:4998017 (GRCh38)
                  7:5037648 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:4998016:G:A
                  Gene:
                  RNF216P1 (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=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1482977964 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    7:4997941 (GRCh38)
                    7:5037572 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:4997940:C:A
                    Gene:
                    RNF216P1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1482104148 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:4997049 (GRCh38)
                      7:5036680 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:4997048:G:A
                      Gene:
                      RNF216P1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1482066691 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        7:4997487 (GRCh38)
                        7:5037118 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:4997486:G:A
                        Gene:
                        RNF216P1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1481579625 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          7:4996880 (GRCh38)
                          7:5036511 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:4996879:C:T
                          Gene:
                          RNF216P1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000021/3 (GnomAD)
                          T=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1481523995 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            7:4997452 (GRCh38)
                            7:5037083 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:4997451:C:A,NC_000007.14:4997451:C:T
                            Gene:
                            RNF216P1 (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)
                            T=0.000312/2 (1000Genomes)
                            A=0.001092/2 (Korea1K)
                            HGVS:
                            14.

                            rs1480891114 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              7:4974040 (GRCh38)
                              7:5013671 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:4974039:G:C
                              Gene:
                              RNF216P1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1479014816 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,T [Show Flanks]
                                Chromosome:
                                7:4998137 (GRCh38)
                                7:5037768 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:4998136:A:C,NC_000007.14:4998136:A:T
                                Gene:
                                RNF216P1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1478577432 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:4997086 (GRCh38)
                                  7:5036717 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:4997085:G:A
                                  Gene:
                                  RNF216P1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.0002/1 (ALFA)
                                  HGVS:
                                  17.

                                  rs1478249166 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    7:4997726 (GRCh38)
                                    7:5037357 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:4997725:T:A,NC_000007.14:4997725:T:C
                                    Gene:
                                    RNF216P1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000142/2 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    C=0.000038/10 (TOPMED)
                                    A=0.000342/1 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1472979757 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AT>- [Show Flanks]
                                      Chromosome:
                                      7:4998063 (GRCh38)
                                      7:5037694 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:4998061:TAT:T
                                      Gene:
                                      RNF216P1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      -=0.000023/6 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1472679687 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:4997455 (GRCh38)
                                        7:5037086 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:4997454:G:A
                                        Gene:
                                        RNF216P1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.00003/8 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1472263106 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          7:4976337 (GRCh38)
                                          7:5015968 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:4976336:A:C
                                          Gene:
                                          RNF216P1 (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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