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Links from Nucleotide

Items: 1 to 20 of 367

1.

rs1490307073 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    7:148988473 (GRCh38)
    7:148685565 (GRCh37)
    Canonical SPDI:
    NC_000007.14:148988472:T:C
    Gene:
    RNY1 (Varview), GHET1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1489443056 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      7:148987908 (GRCh38)
      7:148685000 (GRCh37)
      Canonical SPDI:
      NC_000007.14:148987907:G:A,NC_000007.14:148987907:G:C
      Gene:
      RNY1 (Varview), GHET1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1484960480 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        7:148987681 (GRCh38)
        7:148684773 (GRCh37)
        Canonical SPDI:
        NC_000007.14:148987680:G:C,NC_000007.14:148987680:G:T
        Gene:
        RNY1 (Varview), GHET1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1481366317 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          7:148989180 (GRCh38)
          7:148686272 (GRCh37)
          Canonical SPDI:
          NC_000007.14:148989179:T:C
          Gene:
          RNY1 (Varview), GHET1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1478093960 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            7:148988052 (GRCh38)
            7:148685144 (GRCh37)
            Canonical SPDI:
            NC_000007.14:148988051:G:C
            Gene:
            RNY1 (Varview), GHET1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000015/4 (TOPMED)
            C=0.000684/2 (KOREAN)
            HGVS:
            6.

            rs1477377698 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              7:148987549 (GRCh38)
              7:148684641 (GRCh37)
              Canonical SPDI:
              NC_000007.14:148987548:G:A,NC_000007.14:148987548:G:C
              Gene:
              RNY1 (Varview), GHET1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1475281802 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                7:148988653 (GRCh38)
                7:148685745 (GRCh37)
                Canonical SPDI:
                NC_000007.14:148988652:A:G
                Gene:
                RNY1 (Varview), GHET1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1472143199 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:148989070 (GRCh38)
                  7:148686162 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:148989069:C:T
                  Gene:
                  RNY1 (Varview), GHET1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1470933987 has merged into rs369679580 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    7:148989319 (GRCh38)
                    7:148686411 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:148989316:ATAT:AT
                    Gene:
                    GHET1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATAT=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1469764449 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      7:148988730 (GRCh38)
                      7:148685822 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:148988729:G:T
                      Gene:
                      RNY1 (Varview), GHET1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1468928044 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:148988251 (GRCh38)
                        7:148685343 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:148988250:A:G
                        Gene:
                        RNY1 (Varview), GHET1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1468537053 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          7:148989083 (GRCh38)
                          7:148686175 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:148989082:G:T
                          Gene:
                          RNY1 (Varview), GHET1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1466105846 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:148988128 (GRCh38)
                            7:148685220 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:148988127:T:C
                            Gene:
                            RNY1 (Varview), GHET1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1464542458 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              7:148987643 (GRCh38)
                              7:148684735 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:148987642:A:G,NC_000007.14:148987642:A:T
                              Gene:
                              RNY1 (Varview), GHET1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1463547236 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                7:148987739 (GRCh38)
                                7:148684831 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:148987738:T:C
                                Gene:
                                RNY1 (Varview), GHET1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1461448960 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:148988386 (GRCh38)
                                  7:148685478 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:148988385:G:A
                                  Gene:
                                  RNY1 (Varview), GHET1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000142/2 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1461390032 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:148988293 (GRCh38)
                                    7:148685385 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:148988292:C:T
                                    Gene:
                                    RNY1 (Varview), GHET1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1457413441 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      7:148987796 (GRCh38)
                                      7:148684888 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:148987795:A:G
                                      Gene:
                                      RNY1 (Varview), GHET1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1449013127 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:148988285 (GRCh38)
                                        7:148685377 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:148988284:A:G
                                        Gene:
                                        RNY1 (Varview), GHET1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,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.

                                        rs1448403494 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          7:148987631 (GRCh38)
                                          7:148684723 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:148987630:A:G
                                          Gene:
                                          RNY1 (Varview), GHET1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:

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