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 1085

1.

rs1490074682 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    21:25880677 (GRCh38)
    21:27252988 (GRCh37)
    Canonical SPDI:
    NC_000021.9:25880676:C:T
    Gene:
    APP (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1489915913 has merged into rs966712982 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      A>-,AA [Show Flanks]
      Chromosome:
      21:25881013 (GRCh38)
      21:27253324 (GRCh37)
      Canonical SPDI:
      NC_000021.9:25881012:AAAAAAA:AAAAAA,NC_000021.9:25881012:AAAAAAA:AAAAAAAA
      Gene:
      APP (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAA=0./0 (ALFA)
      -=0.00004/1 (TOMMO)
      HGVS:
      NC_000021.9:g.25881019del, NC_000021.9:g.25881019dup, NC_000021.8:g.27253330del, NC_000021.8:g.27253330dup, NG_007376.2:g.295116del, NG_007376.2:g.295116dup, NM_000484.4:c.*657del, NM_000484.4:c.*657dup, NM_000484.3:c.*657del, NM_000484.3:c.*657dup, NM_001136016.3:c.*657del, NM_001136016.3:c.*657dup, NM_201413.3:c.*657del, NM_201413.3:c.*657dup, NM_201413.2:c.*657del, NM_201413.2:c.*657dup, NM_001136130.3:c.*657del, NM_001136130.3:c.*657dup, NM_001136130.2:c.*657del, NM_001136130.2:c.*657dup, NM_201414.3:c.*657del, NM_201414.3:c.*657dup, NM_201414.2:c.*657del, NM_201414.2:c.*657dup, NM_001136131.3:c.*657del, NM_001136131.3:c.*657dup, NM_001136131.2:c.*657del, NM_001136131.2:c.*657dup, NM_001136129.3:c.*657del, NM_001136129.3:c.*657dup, NM_001136129.2:c.*657del, NM_001136129.2:c.*657dup, NM_001204301.2:c.*657del, NM_001204301.2:c.*657dup, NM_001204301.1:c.*657del, NM_001204301.1:c.*657dup, NM_001204302.2:c.*657del, NM_001204302.2:c.*657dup, NM_001204302.1:c.*657del, NM_001204302.1:c.*657dup, NM_001204303.2:c.*657del, NM_001204303.2:c.*657dup, NM_001204303.1:c.*657del, NM_001204303.1:c.*657dup, NM_001385253.1:c.*657del, NM_001385253.1:c.*657dup

      3.

      rs1489658935 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        21:26140224 (GRCh38)
        21:27512542 (GRCh37)
        Canonical SPDI:
        NC_000021.9:26140223:A:G
        Gene:
        APP (Varview), LOC124900466 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000198/3 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000014/2 (GnomAD)
        G=0.000446/2 (Estonian)
        HGVS:

        4.

        rs1487985867 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          21:25881546 (GRCh38)
          21:27253857 (GRCh37)
          Canonical SPDI:
          NC_000021.9:25881543:AAAA:AA
          Gene:
          APP (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAA=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000011/3 (TOPMED)
          HGVS:

          5.

          rs1487805466 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            21:25976028 (GRCh38)
            21:27348341 (GRCh37)
            Canonical SPDI:
            NC_000021.9:25976027:C:G
            Gene:
            APP (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000021.9:g.25976028C>G, NC_000021.8:g.27348341C>G, NG_007376.2:g.200101G>C, NM_000484.4:c.1225G>C, NM_000484.3:c.1225G>C, NM_001136016.3:c.1153G>C, NM_201413.3:c.1168G>C, NM_201413.2:c.1168G>C, NM_001136130.3:c.1057G>C, NM_001136130.2:c.1057G>C, NM_201414.3:c.1000G>C, NM_201414.2:c.1000G>C, NM_001136131.3:c.895G>C, NM_001136131.2:c.895G>C, NM_001136129.3:c.832G>C, NM_001136129.2:c.832G>C, NM_001204301.2:c.1225G>C, NM_001204301.1:c.1225G>C, NM_001204302.2:c.1168G>C, NM_001204302.1:c.1168G>C, NM_001204303.2:c.1000G>C, NM_001204303.1:c.1000G>C, NM_001385253.1:c.1057G>C, NP_000475.1:p.Val409Leu, NP_001129488.1:p.Val385Leu, NP_958816.1:p.Val390Leu, NP_001129602.1:p.Val353Leu, NP_958817.1:p.Val334Leu, NP_001129603.1:p.Val299Leu, NP_001129601.1:p.Val278Leu, NP_001191230.1:p.Val409Leu, NP_001191231.1:p.Val390Leu, NP_001191232.1:p.Val334Leu, NP_001372182.1:p.Val353Leu

            6.

            rs1487775319 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              21:25954620 (GRCh38)
              21:27326934 (GRCh37)
              Canonical SPDI:
              NC_000021.9:25954619:C:T
              Gene:
              APP (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000021.9:g.25954620C>T, NC_000021.8:g.27326934C>T, NG_007376.2:g.221509G>A, NM_000484.4:c.1657G>A, NM_000484.3:c.1657G>A, NM_001136016.3:c.1585G>A, NM_201413.3:c.1600G>A, NM_201413.2:c.1600G>A, NM_001136130.3:c.1489G>A, NM_001136130.2:c.1489G>A, NM_201414.3:c.1432G>A, NM_201414.2:c.1432G>A, NM_001136131.3:c.1327G>A, NM_001136131.2:c.1327G>A, NM_001136129.3:c.1264G>A, NM_001136129.2:c.1264G>A, NM_001204301.2:c.1657G>A, NM_001204301.1:c.1657G>A, NM_001204302.2:c.1600G>A, NM_001204302.1:c.1600G>A, NM_001204303.2:c.1432G>A, NM_001204303.1:c.1432G>A, NM_001385253.1:c.1489G>A, NG_081823.1:g.57C>T, NP_000475.1:p.Ala553Thr, NP_001129488.1:p.Ala529Thr, NP_958816.1:p.Ala534Thr, NP_001129602.1:p.Ala497Thr, NP_958817.1:p.Ala478Thr, NP_001129603.1:p.Ala443Thr, NP_001129601.1:p.Ala422Thr, NP_001191230.1:p.Ala553Thr, NP_001191231.1:p.Ala534Thr, NP_001191232.1:p.Ala478Thr, NP_001372182.1:p.Ala497Thr

              7.

              rs1486801224 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                21:25955740 (GRCh38)
                21:27328054 (GRCh37)
                Canonical SPDI:
                NC_000021.9:25955739:T:C
                Gene:
                APP (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.25955740T>C, NC_000021.8:g.27328054T>C, NG_007376.2:g.220389A>G, NM_000484.4:c.1474A>G, NM_000484.3:c.1474A>G, NM_001136016.3:c.1402A>G, NM_201413.3:c.1417A>G, NM_201413.2:c.1417A>G, NM_001136130.3:c.1306A>G, NM_001136130.2:c.1306A>G, NM_201414.3:c.1249A>G, NM_201414.2:c.1249A>G, NM_001136131.3:c.1144A>G, NM_001136131.2:c.1144A>G, NM_001136129.3:c.1081A>G, NM_001136129.2:c.1081A>G, NM_001204301.2:c.1474A>G, NM_001204301.1:c.1474A>G, NM_001204302.2:c.1417A>G, NM_001204302.1:c.1417A>G, NM_001204303.2:c.1249A>G, NM_001204303.1:c.1249A>G, NM_001385253.1:c.1306A>G, NG_081823.1:g.1177T>C, NP_000475.1:p.Asn492Asp, NP_001129488.1:p.Asn468Asp, NP_958816.1:p.Asn473Asp, NP_001129602.1:p.Asn436Asp, NP_958817.1:p.Asn417Asp, NP_001129603.1:p.Asn382Asp, NP_001129601.1:p.Asn361Asp, NP_001191230.1:p.Asn492Asp, NP_001191231.1:p.Asn473Asp, NP_001191232.1:p.Asn417Asp, NP_001372182.1:p.Asn436Asp

                8.

                rs1486755973 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  21:25880957 (GRCh38)
                  21:27253268 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:25880956:G:A,NC_000021.9:25880956:G:C,NC_000021.9:25880956:G:T
                  Gene:
                  APP (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.00067/8 (ALFA)
                  A=0.00166/3 (Korea1K)
                  A=0.02677/78 (KOREAN)
                  HGVS:
                  NC_000021.9:g.25880957G>A, NC_000021.9:g.25880957G>C, NC_000021.9:g.25880957G>T, NC_000021.8:g.27253268G>A, NC_000021.8:g.27253268G>C, NC_000021.8:g.27253268G>T, NG_007376.2:g.295172C>T, NG_007376.2:g.295172C>G, NG_007376.2:g.295172C>A, NM_000484.4:c.*713C>T, NM_000484.4:c.*713C>G, NM_000484.4:c.*713C>A, NM_000484.3:c.*713C>T, NM_000484.3:c.*713C>G, NM_000484.3:c.*713C>A, NM_001136016.3:c.*713C>T, NM_001136016.3:c.*713C>G, NM_001136016.3:c.*713C>A, NM_201413.3:c.*713C>T, NM_201413.3:c.*713C>G, NM_201413.3:c.*713C>A, NM_201413.2:c.*713C>T, NM_201413.2:c.*713C>G, NM_201413.2:c.*713C>A, NM_001136130.3:c.*713C>T, NM_001136130.3:c.*713C>G, NM_001136130.3:c.*713C>A, NM_001136130.2:c.*713C>T, NM_001136130.2:c.*713C>G, NM_001136130.2:c.*713C>A, NM_201414.3:c.*713C>T, NM_201414.3:c.*713C>G, NM_201414.3:c.*713C>A, NM_201414.2:c.*713C>T, NM_201414.2:c.*713C>G, NM_201414.2:c.*713C>A, NM_001136131.3:c.*713C>T, NM_001136131.3:c.*713C>G, NM_001136131.3:c.*713C>A, NM_001136131.2:c.*713C>T, NM_001136131.2:c.*713C>G, NM_001136131.2:c.*713C>A, NM_001136129.3:c.*713C>T, NM_001136129.3:c.*713C>G, NM_001136129.3:c.*713C>A, NM_001136129.2:c.*713C>T, NM_001136129.2:c.*713C>G, NM_001136129.2:c.*713C>A, NM_001204301.2:c.*713C>T, NM_001204301.2:c.*713C>G, NM_001204301.2:c.*713C>A, NM_001204301.1:c.*713C>T, NM_001204301.1:c.*713C>G, NM_001204301.1:c.*713C>A, NM_001204302.2:c.*713C>T, NM_001204302.2:c.*713C>G, NM_001204302.2:c.*713C>A, NM_001204302.1:c.*713C>T, NM_001204302.1:c.*713C>G, NM_001204302.1:c.*713C>A, NM_001204303.2:c.*713C>T, NM_001204303.2:c.*713C>G, NM_001204303.2:c.*713C>A, NM_001204303.1:c.*713C>T, NM_001204303.1:c.*713C>G, NM_001204303.1:c.*713C>A, NM_001385253.1:c.*713C>T, NM_001385253.1:c.*713C>G, NM_001385253.1:c.*713C>A

                  9.

                  rs1485162032 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    21:25880551 (GRCh38)
                    21:27252862 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:25880550:G:C
                    Gene:
                    APP (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000015/4 (TOPMED)
                    HGVS:

                    10.

                    rs1484754023 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      A>G
                      Chromosome:
                      no mapping
                      Canonical SPDI:

                      11.

                      rs1482948530 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        21:26112143 (GRCh38)
                        21:27484460 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:26112142:G:A
                        Gene:
                        APP (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000028/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1481642232 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          21:25955741 (GRCh38)
                          21:27328055 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:25955740:G:A
                          Gene:
                          APP (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1481409838 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            21:25975228 (GRCh38)
                            21:27347541 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:25975227:G:C
                            Gene:
                            APP (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000021.9:g.25975228G>C, NC_000021.8:g.27347541G>C, NG_007376.2:g.200901C>G, NM_000484.4:c.1300C>G, NM_000484.3:c.1300C>G, NM_001136016.3:c.1228C>G, NM_201413.3:c.1243C>G, NM_201413.2:c.1243C>G, NM_001136130.3:c.1132C>G, NM_001136130.2:c.1132C>G, NM_201414.3:c.1075C>G, NM_201414.2:c.1075C>G, NM_001136131.3:c.970C>G, NM_001136131.2:c.970C>G, NM_001136129.3:c.907C>G, NM_001136129.2:c.907C>G, NM_001204301.2:c.1300C>G, NM_001204301.1:c.1300C>G, NM_001204302.2:c.1243C>G, NM_001204302.1:c.1243C>G, NM_001204303.2:c.1075C>G, NM_001204303.1:c.1075C>G, NM_001385253.1:c.1132C>G, NP_000475.1:p.His434Asp, NP_001129488.1:p.His410Asp, NP_958816.1:p.His415Asp, NP_001129602.1:p.His378Asp, NP_958817.1:p.His359Asp, NP_001129603.1:p.His324Asp, NP_001129601.1:p.His303Asp, NP_001191230.1:p.His434Asp, NP_001191231.1:p.His415Asp, NP_001191232.1:p.His359Asp, NP_001372182.1:p.His378Asp

                            14.

                            rs1481257485 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              21:25881620 (GRCh38)
                              21:27253931 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:25881619:G:A,NC_000021.9:25881619:G:C
                              Gene:
                              APP (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              C=0.000071/1 (TOMMO)
                              HGVS:
                              NC_000021.9:g.25881620G>A, NC_000021.9:g.25881620G>C, NC_000021.8:g.27253931G>A, NC_000021.8:g.27253931G>C, NG_007376.2:g.294509C>T, NG_007376.2:g.294509C>G, NM_000484.4:c.*50C>T, NM_000484.4:c.*50C>G, NM_000484.3:c.*50C>T, NM_000484.3:c.*50C>G, NM_001136016.3:c.*50C>T, NM_001136016.3:c.*50C>G, NM_201413.3:c.*50C>T, NM_201413.3:c.*50C>G, NM_201413.2:c.*50C>T, NM_201413.2:c.*50C>G, NM_001136130.3:c.*50C>T, NM_001136130.3:c.*50C>G, NM_001136130.2:c.*50C>T, NM_001136130.2:c.*50C>G, NM_201414.3:c.*50C>T, NM_201414.3:c.*50C>G, NM_201414.2:c.*50C>T, NM_201414.2:c.*50C>G, NM_001136131.3:c.*50C>T, NM_001136131.3:c.*50C>G, NM_001136131.2:c.*50C>T, NM_001136131.2:c.*50C>G, NM_001136129.3:c.*50C>T, NM_001136129.3:c.*50C>G, NM_001136129.2:c.*50C>T, NM_001136129.2:c.*50C>G, NM_001204301.2:c.*50C>T, NM_001204301.2:c.*50C>G, NM_001204301.1:c.*50C>T, NM_001204301.1:c.*50C>G, NM_001204302.2:c.*50C>T, NM_001204302.2:c.*50C>G, NM_001204302.1:c.*50C>T, NM_001204302.1:c.*50C>G, NM_001204303.2:c.*50C>T, NM_001204303.2:c.*50C>G, NM_001204303.1:c.*50C>T, NM_001204303.1:c.*50C>G, NM_001385253.1:c.*50C>T, NM_001385253.1:c.*50C>G

                              15.

                              rs1479517600 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                21:25881113 (GRCh38)
                                21:27253424 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:25881112:T:C
                                Gene:
                                APP (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000026/7 (TOPMED)
                                C=0.000043/6 (GnomAD)
                                T=0.5/2 (SGDP_PRJ)
                                HGVS:

                                16.

                                rs1477489193 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  21:25881006 (GRCh38)
                                  21:27253317 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:25881005:C:G,NC_000021.9:25881005:C:T
                                  Gene:
                                  APP (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000009/1 (GnomAD)
                                  T=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000021.9:g.25881006C>G, NC_000021.9:g.25881006C>T, NC_000021.8:g.27253317C>G, NC_000021.8:g.27253317C>T, NG_007376.2:g.295123G>C, NG_007376.2:g.295123G>A, NM_000484.4:c.*664G>C, NM_000484.4:c.*664G>A, NM_000484.3:c.*664G>C, NM_000484.3:c.*664G>A, NM_001136016.3:c.*664G>C, NM_001136016.3:c.*664G>A, NM_201413.3:c.*664G>C, NM_201413.3:c.*664G>A, NM_201413.2:c.*664G>C, NM_201413.2:c.*664G>A, NM_001136130.3:c.*664G>C, NM_001136130.3:c.*664G>A, NM_001136130.2:c.*664G>C, NM_001136130.2:c.*664G>A, NM_201414.3:c.*664G>C, NM_201414.3:c.*664G>A, NM_201414.2:c.*664G>C, NM_201414.2:c.*664G>A, NM_001136131.3:c.*664G>C, NM_001136131.3:c.*664G>A, NM_001136131.2:c.*664G>C, NM_001136131.2:c.*664G>A, NM_001136129.3:c.*664G>C, NM_001136129.3:c.*664G>A, NM_001136129.2:c.*664G>C, NM_001136129.2:c.*664G>A, NM_001204301.2:c.*664G>C, NM_001204301.2:c.*664G>A, NM_001204301.1:c.*664G>C, NM_001204301.1:c.*664G>A, NM_001204302.2:c.*664G>C, NM_001204302.2:c.*664G>A, NM_001204302.1:c.*664G>C, NM_001204302.1:c.*664G>A, NM_001204303.2:c.*664G>C, NM_001204303.2:c.*664G>A, NM_001204303.1:c.*664G>C, NM_001204303.1:c.*664G>A, NM_001385253.1:c.*664G>C, NM_001385253.1:c.*664G>A

                                  17.

                                  rs1476605928 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    21:25880937 (GRCh38)
                                    21:27253248 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:25880936:T:A,NC_000021.9:25880936:T:C
                                    Gene:
                                    APP (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.04086/664 (ALFA)
                                    C=0.04768/795 (TOMMO)
                                    C=0.12045/351 (KOREAN)
                                    HGVS:
                                    NC_000021.9:g.25880937T>A, NC_000021.9:g.25880937T>C, NC_000021.8:g.27253248T>A, NC_000021.8:g.27253248T>C, NG_007376.2:g.295192A>T, NG_007376.2:g.295192A>G, NM_000484.4:c.*733A>T, NM_000484.4:c.*733A>G, NM_000484.3:c.*733A>T, NM_000484.3:c.*733A>G, NM_001136016.3:c.*733A>T, NM_001136016.3:c.*733A>G, NM_201413.3:c.*733A>T, NM_201413.3:c.*733A>G, NM_201413.2:c.*733A>T, NM_201413.2:c.*733A>G, NM_001136130.3:c.*733A>T, NM_001136130.3:c.*733A>G, NM_001136130.2:c.*733A>T, NM_001136130.2:c.*733A>G, NM_201414.3:c.*733A>T, NM_201414.3:c.*733A>G, NM_201414.2:c.*733A>T, NM_201414.2:c.*733A>G, NM_001136131.3:c.*733A>T, NM_001136131.3:c.*733A>G, NM_001136131.2:c.*733A>T, NM_001136131.2:c.*733A>G, NM_001136129.3:c.*733A>T, NM_001136129.3:c.*733A>G, NM_001136129.2:c.*733A>T, NM_001136129.2:c.*733A>G, NM_001204301.2:c.*733A>T, NM_001204301.2:c.*733A>G, NM_001204301.1:c.*733A>T, NM_001204301.1:c.*733A>G, NM_001204302.2:c.*733A>T, NM_001204302.2:c.*733A>G, NM_001204302.1:c.*733A>T, NM_001204302.1:c.*733A>G, NM_001204303.2:c.*733A>T, NM_001204303.2:c.*733A>G, NM_001204303.1:c.*733A>T, NM_001204303.1:c.*733A>G, NM_001385253.1:c.*733A>T, NM_001385253.1:c.*733A>G

                                    18.

                                    rs1476501803 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      21:25982455 (GRCh38)
                                      21:27354768 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:25982454:G:A
                                      Gene:
                                      APP (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1476363021 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        21:25955678 (GRCh38)
                                        21:27327992 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:25955677:G:A,NC_000021.9:25955677:G:T
                                        Gene:
                                        APP (Varview)
                                        Functional Consequence:
                                        missense_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        T=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000021.9:g.25955678G>A, NC_000021.9:g.25955678G>T, NC_000021.8:g.27327992G>A, NC_000021.8:g.27327992G>T, NG_007376.2:g.220451C>T, NG_007376.2:g.220451C>A, NM_000484.4:c.1536C>T, NM_000484.4:c.1536C>A, NM_000484.3:c.1536C>T, NM_000484.3:c.1536C>A, NM_001136016.3:c.1464C>T, NM_001136016.3:c.1464C>A, NM_201413.3:c.1479C>T, NM_201413.3:c.1479C>A, NM_201413.2:c.1479C>T, NM_201413.2:c.1479C>A, NM_001136130.3:c.1368C>T, NM_001136130.3:c.1368C>A, NM_001136130.2:c.1368C>T, NM_001136130.2:c.1368C>A, NM_201414.3:c.1311C>T, NM_201414.3:c.1311C>A, NM_201414.2:c.1311C>T, NM_201414.2:c.1311C>A, NM_001136131.3:c.1206C>T, NM_001136131.3:c.1206C>A, NM_001136131.2:c.1206C>T, NM_001136131.2:c.1206C>A, NM_001136129.3:c.1143C>T, NM_001136129.3:c.1143C>A, NM_001136129.2:c.1143C>T, NM_001136129.2:c.1143C>A, NM_001204301.2:c.1536C>T, NM_001204301.2:c.1536C>A, NM_001204301.1:c.1536C>T, NM_001204301.1:c.1536C>A, NM_001204302.2:c.1479C>T, NM_001204302.2:c.1479C>A, NM_001204302.1:c.1479C>T, NM_001204302.1:c.1479C>A, NM_001204303.2:c.1311C>T, NM_001204303.2:c.1311C>A, NM_001204303.1:c.1311C>T, NM_001204303.1:c.1311C>A, NM_001385253.1:c.1368C>T, NM_001385253.1:c.1368C>A, NG_081823.1:g.1115G>A, NG_081823.1:g.1115G>T, NP_000475.1:p.Phe512Leu, NP_001129488.1:p.Phe488Leu, NP_958816.1:p.Phe493Leu, NP_001129602.1:p.Phe456Leu, NP_958817.1:p.Phe437Leu, NP_001129603.1:p.Phe402Leu, NP_001129601.1:p.Phe381Leu, NP_001191230.1:p.Phe512Leu, NP_001191231.1:p.Phe493Leu, NP_001191232.1:p.Phe437Leu, NP_001372182.1:p.Phe456Leu

                                        20.

                                        rs1471820634 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          21:25881612 (GRCh38)
                                          21:27253923 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:25881611:G:A,NC_000021.9:25881611:G:C
                                          Gene:
                                          APP (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000021.9:g.25881612G>A, NC_000021.9:g.25881612G>C, NC_000021.8:g.27253923G>A, NC_000021.8:g.27253923G>C, NG_007376.2:g.294517C>T, NG_007376.2:g.294517C>G, NM_000484.4:c.*58C>T, NM_000484.4:c.*58C>G, NM_000484.3:c.*58C>T, NM_000484.3:c.*58C>G, NM_001136016.3:c.*58C>T, NM_001136016.3:c.*58C>G, NM_201413.3:c.*58C>T, NM_201413.3:c.*58C>G, NM_201413.2:c.*58C>T, NM_201413.2:c.*58C>G, NM_001136130.3:c.*58C>T, NM_001136130.3:c.*58C>G, NM_001136130.2:c.*58C>T, NM_001136130.2:c.*58C>G, NM_201414.3:c.*58C>T, NM_201414.3:c.*58C>G, NM_201414.2:c.*58C>T, NM_201414.2:c.*58C>G, NM_001136131.3:c.*58C>T, NM_001136131.3:c.*58C>G, NM_001136131.2:c.*58C>T, NM_001136131.2:c.*58C>G, NM_001136129.3:c.*58C>T, NM_001136129.3:c.*58C>G, NM_001136129.2:c.*58C>T, NM_001136129.2:c.*58C>G, NM_001204301.2:c.*58C>T, NM_001204301.2:c.*58C>G, NM_001204301.1:c.*58C>T, NM_001204301.1:c.*58C>G, NM_001204302.2:c.*58C>T, NM_001204302.2:c.*58C>G, NM_001204302.1:c.*58C>T, NM_001204302.1:c.*58C>G, NM_001204303.2:c.*58C>T, NM_001204303.2:c.*58C>G, NM_001204303.1:c.*58C>T, NM_001204303.1:c.*58C>G, NM_001385253.1:c.*58C>T, NM_001385253.1:c.*58C>G

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity