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Links from Nucleotide

Items: 1 to 20 of 4378

1.

rs1491050643 has merged into rs57056816 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    2:68654814 (GRCh38)
    2:68881946 (GRCh37)
    Canonical SPDI:
    NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
    Gene:
    PROKR1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAA=0./0 (ALFA)
    A=0.4936/2472 (1000Genomes)
    HGVS:
    NC_000002.12:g.68654814_68654823del, NC_000002.12:g.68654817_68654823del, NC_000002.12:g.68654818_68654823del, NC_000002.12:g.68654819_68654823del, NC_000002.12:g.68654820_68654823del, NC_000002.12:g.68654821_68654823del, NC_000002.12:g.68654822_68654823del, NC_000002.12:g.68654823del, NC_000002.12:g.68654823dup, NC_000002.12:g.68654822_68654823dup, NC_000002.12:g.68654821_68654823dup, NC_000002.12:g.68654820_68654823dup, NC_000002.11:g.68881946_68881955del, NC_000002.11:g.68881949_68881955del, NC_000002.11:g.68881950_68881955del, NC_000002.11:g.68881951_68881955del, NC_000002.11:g.68881952_68881955del, NC_000002.11:g.68881953_68881955del, NC_000002.11:g.68881954_68881955del, NC_000002.11:g.68881955del, NC_000002.11:g.68881955dup, NC_000002.11:g.68881954_68881955dup, NC_000002.11:g.68881953_68881955dup, NC_000002.11:g.68881952_68881955dup, NG_051312.1:g.16227_16236del, NG_051312.1:g.16230_16236del, NG_051312.1:g.16231_16236del, NG_051312.1:g.16232_16236del, NG_051312.1:g.16233_16236del, NG_051312.1:g.16234_16236del, NG_051312.1:g.16235_16236del, NG_051312.1:g.16236del, NG_051312.1:g.16236dup, NG_051312.1:g.16235_16236dup, NG_051312.1:g.16234_16236dup, NG_051312.1:g.16233_16236dup
    2.

    rs1491028162 has merged into rs762938622 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TA>-,TATA [Show Flanks]
      Chromosome:
      2:68653437 (GRCh38)
      2:68880569 (GRCh37)
      Canonical SPDI:
      NC_000002.12:68653435:ATA:A,NC_000002.12:68653435:ATA:ATATA
      Gene:
      PROKR1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      AT=0.12766/492 (ALSPAC)
      AT=0.13376/496 (TWINSUK)
      HGVS:
      3.

      rs1490833526 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:68655792 (GRCh38)
        2:68882924 (GRCh37)
        Canonical SPDI:
        NC_000002.12:68655791:G:A
        Gene:
        PROKR1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000014/2 (GnomAD)
        A=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1490765069 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          2:68641450 (GRCh38)
          2:68868582 (GRCh37)
          Canonical SPDI:
          NC_000002.12:68641449:T:G
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000035/1 (TOMMO)
          HGVS:
          5.

          rs1490582707 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            2:68654329 (GRCh38)
            2:68881461 (GRCh37)
            Canonical SPDI:
            NC_000002.12:68654328:C:G
            Gene:
            PROKR1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.00092/15 (TOMMO)
            HGVS:
            6.

            rs1490565525 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:68640457 (GRCh38)
              2:68867589 (GRCh37)
              Canonical SPDI:
              NC_000002.12:68640456:C:T
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490494351 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:68643514 (GRCh38)
                2:68870646 (GRCh37)
                Canonical SPDI:
                NC_000002.12:68643513:C:T
                Gene:
                PROKR1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency
                MAF:
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490371861 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:68647760 (GRCh38)
                  2:68874892 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:68647759:C:T
                  Gene:
                  PROKR1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490368012 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:68647664 (GRCh38)
                    2:68874796 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:68647663:C:T
                    Gene:
                    PROKR1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489884695 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:68657238 (GRCh38)
                      2:68884370 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:68657237:A:G
                      Gene:
                      PROKR1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489730950 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        2:68647134 (GRCh38)
                        2:68874266 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:68647133:G:A,NC_000002.12:68647133:G:C
                        Gene:
                        PROKR1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489664694 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:68646906 (GRCh38)
                          2:68874038 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:68646905:A:G
                          Gene:
                          PROKR1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489455250 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:68654004 (GRCh38)
                            2:68881136 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:68654003:G:A
                            Gene:
                            PROKR1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1489421687 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:68642414 (GRCh38)
                              2:68869546 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:68642413:A:G
                              Gene:
                              PROKR1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1489356616 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:68654792 (GRCh38)
                                2:68881924 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:68654791:G:A
                                Gene:
                                PROKR1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000008/1 (GnomAD)
                                A=0.000071/1 (TOMMO)
                                HGVS:
                                16.

                                rs1489239667 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  2:68645494 (GRCh38)
                                  2:68872626 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:68645493:A:T
                                  Gene:
                                  PROKR1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489204157 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:68643334 (GRCh38)
                                    2:68870466 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:68643333:G:A
                                    Gene:
                                    PROKR1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488987211 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GAG>- [Show Flanks]
                                      Chromosome:
                                      2:68646824 (GRCh38)
                                      2:68873956 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:68646818:AGGAGGAG:AGGAG
                                      Gene:
                                      PROKR1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AGGAG=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488443217 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:68651513 (GRCh38)
                                        2:68878645 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:68651512:A:G
                                        Gene:
                                        PROKR1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488284505 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:68640312 (GRCh38)
                                          2:68867444 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:68640311:G:A
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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