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Links from Nucleotide

Items: 1 to 20 of 438

1.

rs1487118542 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:71098169 (GRCh38)
    17:69094310 (GRCh37)
    Canonical SPDI:
    NC_000017.11:71098168:C:T
    Gene:
    CASC17 (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=0.000342/1 (KOREAN)
    HGVS:
    2.

    rs1487032114 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      17:71098239 (GRCh38)
      17:69094380 (GRCh37)
      Canonical SPDI:
      NC_000017.11:71098238:T:C,NC_000017.11:71098238:T:G
      Gene:
      CASC17 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1486405023 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        17:71098523 (GRCh38)
        17:69094664 (GRCh37)
        Canonical SPDI:
        NC_000017.11:71098522:A:C,NC_000017.11:71098522:A:G
        Gene:
        CASC17 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1486274494 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          17:71099127 (GRCh38)
          17:69095268 (GRCh37)
          Canonical SPDI:
          NC_000017.11:71099126:T:C,NC_000017.11:71099126:T:G
          Gene:
          CASC17 (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=0.000035/1 (TOMMO)
          HGVS:
          5.

          rs1485518384 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            17:71099080 (GRCh38)
            17:69095221 (GRCh37)
            Canonical SPDI:
            NC_000017.11:71099079:T:A
            Gene:
            CASC17 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1485062446 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:71098275 (GRCh38)
              17:69094416 (GRCh37)
              Canonical SPDI:
              NC_000017.11:71098274:T:C
              Gene:
              CASC17 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1483793639 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                17:71099513 (GRCh38)
                17:69095654 (GRCh37)
                Canonical SPDI:
                NC_000017.11:71099512:G:A,NC_000017.11:71099512:G:T
                Gene:
                CASC17 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1483465396 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:71098399 (GRCh38)
                  17:69094540 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:71098398:A:G
                  Gene:
                  CASC17 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1477144533 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:71098948 (GRCh38)
                    17:69095089 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:71098947:A:G
                    Gene:
                    CASC17 (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:
                    10.

                    rs1475027262 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:71098797 (GRCh38)
                      17:69094938 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:71098796:G:A
                      Gene:
                      CASC17 (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:
                      11.

                      rs1473052282 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:71098195 (GRCh38)
                        17:69094336 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:71098194:T:C
                        Gene:
                        CASC17 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1472550080 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:71097996 (GRCh38)
                          17:69094137 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:71097995:G:A
                          Gene:
                          CASC17 (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:
                          13.

                          rs1468373869 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:71098379 (GRCh38)
                            17:69094520 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:71098378:A:G
                            Gene:
                            CASC17 (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:
                            14.

                            rs1467450076 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              17:71098223 (GRCh38)
                              17:69094364 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:71098222:CCCC:CCC
                              Gene:
                              CASC17 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CCC=0.000108/2 (ALFA)
                              -=0.000057/15 (TOPMED)
                              -=0.000071/10 (GnomAD)
                              -=0.000223/1 (Estonian)
                              HGVS:
                              15.

                              rs1466520183 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:71097941 (GRCh38)
                                17:69094082 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:71097940:G:A
                                Gene:
                                CASC17 (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=0.000019/5 (TOPMED)
                                HGVS:
                                16.

                                rs1464815649 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:71202131 (GRCh38)
                                  17:69198272 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:71202130:G:A
                                  Gene:
                                  CASC17 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1463529167 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    17:71098356 (GRCh38)
                                    17:69094497 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:71098355:C:A
                                    Gene:
                                    CASC17 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1462717084 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      17:71098692 (GRCh38)
                                      17:69094833 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:71098691:T:A
                                      Gene:
                                      CASC17 (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:
                                      19.

                                      rs1462193672 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:71098243 (GRCh38)
                                        17:69094384 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:71098242:T:C
                                        Gene:
                                        CASC17 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1460831520 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:71132396 (GRCh38)
                                          17:69128537 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:71132395:T:C
                                          Gene:
                                          CASC17 (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=0.000106/3 (TOMMO)
                                          C=0.001092/2 (Korea1K)
                                          HGVS:

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