U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 5905

1.

rs1491493028 has merged into rs369790692 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA,AAAA [Show Flanks]
    Chromosome:
    16:15370451 (GRCh38)
    16:15464308 (GRCh37)
    Canonical SPDI:
    NC_000016.10:15370449:AAA:A,NC_000016.10:15370449:AAA:AA,NC_000016.10:15370449:AAA:AAAA,NC_000016.10:15370449:AAA:AAAAA
    Gene:
    NPIPA5 (Varview), LOC105371103 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491252675 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      16:15368978 (GRCh38)
      16:15462835 (GRCh37)
      Canonical SPDI:
      NC_000016.10:15368977:CA:
      Gene:
      NPIPA5 (Varview), LOC105371103 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00556/66 (ALFA)
      -=0.00127/19 (TOMMO)
      HGVS:
      3.

      rs1491240991 has merged into rs58185103 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        16:15368991 (GRCh38)
        16:15462848 (GRCh37)
        Canonical SPDI:
        NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15368978:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        NPIPA5 (Varview), LOC105371103 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000016.10:g.15368991_15369005del, NC_000016.10:g.15368992_15369005del, NC_000016.10:g.15368993_15369005del, NC_000016.10:g.15368994_15369005del, NC_000016.10:g.15368995_15369005del, NC_000016.10:g.15368996_15369005del, NC_000016.10:g.15368997_15369005del, NC_000016.10:g.15368998_15369005del, NC_000016.10:g.15368999_15369005del, NC_000016.10:g.15369000_15369005del, NC_000016.10:g.15369001_15369005del, NC_000016.10:g.15369002_15369005del, NC_000016.10:g.15369003_15369005del, NC_000016.10:g.15369004_15369005del, NC_000016.10:g.15369005del, NC_000016.10:g.15369005dup, NC_000016.10:g.15369004_15369005dup, NC_000016.10:g.15369003_15369005dup, NC_000016.9:g.15462848_15462862del, NC_000016.9:g.15462849_15462862del, NC_000016.9:g.15462850_15462862del, NC_000016.9:g.15462851_15462862del, NC_000016.9:g.15462852_15462862del, NC_000016.9:g.15462853_15462862del, NC_000016.9:g.15462854_15462862del, NC_000016.9:g.15462855_15462862del, NC_000016.9:g.15462856_15462862del, NC_000016.9:g.15462857_15462862del, NC_000016.9:g.15462858_15462862del, NC_000016.9:g.15462859_15462862del, NC_000016.9:g.15462860_15462862del, NC_000016.9:g.15462861_15462862del, NC_000016.9:g.15462862del, NC_000016.9:g.15462862dup, NC_000016.9:g.15462861_15462862dup, NC_000016.9:g.15462860_15462862dup, NG_054723.1:g.17486_17500del, NG_054723.1:g.17487_17500del, NG_054723.1:g.17488_17500del, NG_054723.1:g.17489_17500del, NG_054723.1:g.17490_17500del, NG_054723.1:g.17491_17500del, NG_054723.1:g.17492_17500del, NG_054723.1:g.17493_17500del, NG_054723.1:g.17494_17500del, NG_054723.1:g.17495_17500del, NG_054723.1:g.17496_17500del, NG_054723.1:g.17497_17500del, NG_054723.1:g.17498_17500del, NG_054723.1:g.17499_17500del, NG_054723.1:g.17500del, NG_054723.1:g.17500dup, NG_054723.1:g.17499_17500dup, NG_054723.1:g.17498_17500dup, NT_187607.1:g.1026950dup, NT_187607.1:g.1026937_1026950del, NT_187607.1:g.1026938_1026950del, NT_187607.1:g.1026939_1026950del, NT_187607.1:g.1026940_1026950del, NT_187607.1:g.1026941_1026950del, NT_187607.1:g.1026942_1026950del, NT_187607.1:g.1026943_1026950del, NT_187607.1:g.1026944_1026950del, NT_187607.1:g.1026945_1026950del, NT_187607.1:g.1026946_1026950del, NT_187607.1:g.1026947_1026950del, NT_187607.1:g.1026948_1026950del, NT_187607.1:g.1026949_1026950del, NT_187607.1:g.1026950del, NT_187607.1:g.1026949_1026950dup, NT_187607.1:g.1026948_1026950dup, NT_187607.1:g.1026947_1026950dup
        4.

        rs1490890337 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          16:15377623 (GRCh38)
          16:15471480 (GRCh37)
          Canonical SPDI:
          NC_000016.10:15377622:T:C,NC_000016.10:15377622:T:G
          Gene:
          NPIPA5 (Varview), LOC105371103 (Varview)
          Functional Consequence:
          upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.00025/3 (ALFA)
          C=0.00023/16 (GnomAD)
          G=0.00045/10 (TOMMO)
          G=0.0169/45 (KOREAN)
          HGVS:
          5.

          rs1490864189 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            16:15379515 (GRCh38)
            16:15473372 (GRCh37)
            Canonical SPDI:
            NC_000016.10:15379514:C:G,NC_000016.10:15379514:C:T
            Gene:
            NPIPA5 (Varview), LOC105371103 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490858406 has merged into rs1268411508 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
              Chromosome:
              16:15375759 (GRCh38)
              16:15469616 (GRCh37)
              Canonical SPDI:
              NC_000016.10:15375741:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:15375741:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:15375741:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:15375741:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:15375741:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
              Gene:
              NPIPA5 (Varview), LOC105371103 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
              -=0.02222/38 (Korea1K)
              HGVS:
              7.

              rs1490522846 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:15363088 (GRCh38)
                16:15456945 (GRCh37)
                Canonical SPDI:
                NC_000016.10:15363087:G:A
                Gene:
                LOC105371103 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.00009/5 (GnomAD)
                A=0.00028/7 (TOMMO)
                HGVS:
                8.

                rs1490394984 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:15370134 (GRCh38)
                  16:15463991 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:15370133:T:C
                  Gene:
                  NPIPA5 (Varview), LOC105371103 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/1 (GnomAD_exomes)
                  C=0.000019/5 (TOPMED)
                  C=0.000022/3 (GnomAD)
                  HGVS:
                  9.

                  rs1490321801 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:15376751 (GRCh38)
                    16:15470608 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:15376750:C:T
                    Gene:
                    NPIPA5 (Varview), LOC105371103 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490098103 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:15377120 (GRCh38)
                      16:15470977 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:15377119:G:A
                      Gene:
                      NPIPA5 (Varview), LOC105371103 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490048506 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:15378704 (GRCh38)
                        16:15472561 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:15378703:C:T
                        Gene:
                        NPIPA5 (Varview), LOC105371103 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.00152/18 (ALFA)
                        C=0./0 (SGDP_PRJ)
                        T=0.00022/3 (TOMMO)
                        T=0.00221/5 (KOREAN)
                        HGVS:
                        12.

                        rs1489936198 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          16:15376595 (GRCh38)
                          16:15470452 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:15376594:C:G,NC_000016.10:15376594:C:T
                          Gene:
                          NPIPA5 (Varview), LOC105371103 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489875910 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            16:15366639 (GRCh38)
                            16:15460496 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:15366638:G:A,NC_000016.10:15366638:G:T
                            Gene:
                            NPIPA5 (Varview), LOC105371103 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000046/6 (GnomAD)
                            HGVS:
                            15.

                            rs1489615842 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:15385373 (GRCh38)
                              16:15479230 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:15385372:G:A
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              16.

                              rs1489609638 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                16:15362419 (GRCh38)
                                16:15456276 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:15362418:C:G,NC_000016.10:15362418:C:T
                                Gene:
                                LOC105371103 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                17.

                                rs1489587048 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  16:15386088 (GRCh38)
                                  16:15479945 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:15386087:G:C
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000021/3 (GnomAD)
                                  C=0.000023/6 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1489581727 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    16:15370233 (GRCh38)
                                    16:15464090 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:15370232:CC:C
                                    Gene:
                                    NPIPA5 (Varview), LOC105371103 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CC=0.000071/1 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000008/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1489486269 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      16:15382487 (GRCh38)
                                      16:15476344 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:15382486:T:G
                                      Gene:
                                      NPIPA5 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_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.

                                      rs1489212991 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        16:15377022 (GRCh38)
                                        16:15470879 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:15377021:T:C
                                        Gene:
                                        NPIPA5 (Varview), LOC105371103 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:

                                        Display Settings:

                                        Format
                                        Items per page
                                        Sort by

                                        Send to:

                                        Choose Destination

                                        Supplemental Content

                                        Find related data

                                        Recent activity