PMID: 24729694

The genetics of Alzheimer's disease.

Clinical interventions in aging
E Bagyinszky, YC Youn, SS An, S Kim
2014

233 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
14-73637661-G-C PSEN1 c.244G>C p.Val82Leu Missense 4/12 -
14-73683933-G-A PSEN1 c.1229G>A p.Cys410Tyr Missense 11/12 -
14-73659429-G-T PSEN1 c.626G>T p.Gly209Val Missense 7/12 -
14-73659552-T-C PSEN1 c.749T>C p.Leu250Ser Missense 7/12 -
14-73659500-A-G PSEN1 c.697A>G p.Met233Val Missense 7/12 -
14-73664756-T-C PSEN1 c.787T>C p.Cys263Arg Missense 8/12 -
14-73640279-A-G PSEN1 c.344A>G p.Tyr115Cys Missense 5/12 -
14-73659443-C-T PSEN1 c.640C>T p.His214Tyr Missense 7/12 -
14-73659443-C-G PSEN1 c.640C>G p.His214Asp Missense 7/12 -
1-227073310-T-A PSEN2 c.428T>A p.Leu143His Missense 6/13 -
14-73659452-G-C PSEN1 c.649G>C p.Gly217Arg Missense 7/12 -
14-73664750-G-C PSEN1 c.781G>C p.Val261Leu Missense 8/12 -
14-73683834-G-T PSEN1 c.1130G>T p.Arg377Met Missense 11/12 -
14-73685852-T-G PSEN1 c.1259T>G p.Leu420Arg Missense 12/12 -
19-1050420-A-G ABCA7 c.2553-500A>G - IntronicSNV - 18/46
10-101672341-A-G DNMBP c.2261-3438T>C - IntronicSNV - 4/16
14-73664823-C-T PSEN1 c.854C>T p.Ala285Val Missense 8/12 -
21-27264108-C-T APP c.2137G>A p.Ala713Thr Missense 17/18 -
14-73659551-T-G PSEN1 c.748T>G p.Leu250Val Missense 7/12 -
21-27264095-A-C APP c.2150T>G p.Val717Gly Missense 17/18 -
10-69281667-TG-GG CTNNA3 c.511_512delCAinsGG p.Gln171Gly Missense 5/18 -
14-73664768-C-T PSEN1 c.799C>T p.Pro267Ser Missense 8/12 -
14-73685864-T-A PSEN1 c.1271T>A p.Leu424His Missense 12/12 -
14-73685864-T-G PSEN1 c.1271T>G p.Leu424Arg Missense 12/12 -
14-73640392-C-G PSEN1 c.457C>G p.Leu153Val Missense 5/12 -
21-27264098-A-G APP c.2147T>C p.Ile716Thr Missense 17/18 -
14-73664780-C-G PSEN1 c.811C>G p.Leu271Val Missense 8/12 -
14-73659479-C-T PSEN1 c.676C>T p.Leu226Phe Missense 7/12 -
14-73653577-T-G PSEN1 c.497T>G p.Leu166Arg Missense 6/12 -
14-73659459-T-C PSEN1 c.656T>C p.Leu219Pro Missense 7/12 -
15-58957340-T-C ADAM10 c.541A>G p.Arg181Gly Missense 5/16 -
14-73685885-C-T PSEN1 c.1292C>T p.Ala431Val Missense 12/12 -
14-73685885-C-A PSEN1 c.1292C>A p.Ala431Glu Missense 12/12 -
14-73685896-C-T PSEN1 c.1303C>T p.Leu435Phe Missense 12/12 -
14-73664769-C-T PSEN1 c.800C>T p.Pro267Leu Missense 8/12 -
14-73640351-T-C PSEN1 c.416T>C p.Met139Thr Missense 5/12 -
14-73640351-T-A PSEN1 c.416T>A p.Met139Lys Missense 5/12 -
21-27264167-T-C APP c.2078A>G p.Glu693Gly Missense 17/18 -
21-27264096-C-G APP c.2149G>C p.Val717Leu Missense 17/18 -
21-27264168-C-T APP c.2077G>A p.Glu693Lys Missense 17/18 -
14-73659458-C-T PSEN1 c.655C>T p.Leu219Phe Missense 7/12 -
14-73683878-C-G PSEN1 c.1174C>G p.Leu392Val Missense 11/12 -
14-73640338-A-G PSEN1 c.403A>G p.Asn135Asp Missense 5/12 -
21-27264168-C-G APP c.2077G>C p.Glu693Gln Missense 17/18 -
14-73637755-T-C PSEN1 c.338T>C p.Leu113Pro Missense 4/12 -
14-73640350-A-G PSEN1 c.415A>G p.Met139Val Missense 5/12 -
14-73640373-G-A PSEN1 c.438G>A p.Met146Ile Missense 5/12 -
14-73653609-T-C PSEN1 c.529T>C p.Phe177Leu Missense 6/12 -
1-227076646-A-T PSEN2 c.683A>T p.Gln228Leu Missense 8/13 -
14-73664750-G-T PSEN1 c.781G>T p.Val261Phe Missense 8/12 -
1-227083221-AC-CT PSEN2 c.1288_1289delACinsCT p.Thr430Leu Missense 13/13 -
14-73640396-A-G PSEN1 c.461A>G p.Tyr154Cys Missense 5/12 -
14-73664784-T-C PSEN1 c.815T>C p.Val272Ala Missense 8/12 -
1-227073246-A-C PSEN2 c.364A>C p.Thr122Pro Missense 6/13 -
14-73653610-T-C PSEN1 c.530T>C p.Phe177Ser Missense 6/12 -
14-73653581-TTAT-T PSEN1 c.501_503delTAT p.Ile168delIle InFrameDeletion 6/12 -
14-73637692-G-C PSEN1 c.275G>C p.Cys92Ser Missense 4/12 -
14-73659453-G-A PSEN1 c.650G>A p.Gly217Asp Missense 7/12 -
14-73653598-T-G PSEN1 c.518T>G p.Leu173Trp Missense 6/12 -
14-73653601-T-G PSEN1 c.521T>G p.Leu174Arg Missense 6/12 -
14-73664760-C-T PSEN1 c.791C>T p.Pro264Leu Missense 8/12 -
14-73653589-C-T PSEN1 c.509C>T p.Ser170Phe Missense 6/12 -
14-73685869-G-C PSEN1 c.1276G>C p.Ala426Pro Missense 12/12 -
1-227075817-C-G PSEN2 c.524C>G p.Ser175Cys Missense 7/13 -
14-73659375-T-C PSEN1 c.572T>C p.Val191Ala Missense 7/12 -
14-73685847-G-C PSEN1 c.1254G>C p.Leu418Phe Missense 12/12 -
14-73637755-T-A PSEN1 c.338T>A p.Leu113Gln Missense 4/12 -
14-73664755-G-T PSEN1 c.786G>T p.Leu262Phe Missense 8/12 -
14-73664755-G-C PSEN1 c.786G>C p.Leu262Phe Missense 8/12 -
14-73683837-G-A PSEN1 c.1133G>A p.Gly378Glu Missense 11/12 -
1-227076680-G-A PSEN2 c.717G>A p.Met239Ile Missense 8/13 -
21-27264167-TTCT-T APP c.2079_2081delAGA p.Glu693delGlu InFrameDeletion 17/18 -
14-73664813-C-G PSEN1 c.844C>G p.Leu282Val Missense 8/12 -
14-73653587-CATC-C PSEN1 c.507_509delATC p.Ser170delSer InFrameDeletion 6/12 -
1-227073304-A-T PSEN2 c.422A>T p.Asn141Ile Missense 6/13 -
14-73659471-A-G PSEN1 c.668A>G p.Gln223Arg Missense 7/12 -
14-73640285-C-T PSEN1 c.350C>T p.Pro117Leu Missense 5/12 -
14-73683929-G-A PSEN1 c.1225G>A p.Ala409Thr Missense 11/12 -
14-73653585-T-C PSEN1 c.505T>C p.Ser169Pro Missense 6/12 -
14-73640285-C-G PSEN1 c.350C>G p.Pro117Arg Missense 5/12 -
14-73659507-T-C PSEN1 c.704T>C p.Leu235Pro Missense 7/12 -
14-73659428-G-A PSEN1 c.625G>A p.Gly209Arg Missense 7/12 -
14-73664765-G-A PSEN1 c.796G>A p.Gly266Ser Missense 8/12 -
21-27264093-T-G APP c.2152A>C p.Ile718Leu Missense 17/18 -
14-73659428-G-C PSEN1 c.625G>C p.Gly209Arg Missense 7/12 -
14-73653577-T-A PSEN1 c.497T>A p.Leu166His Missense 6/12 -
14-73653577-T-C PSEN1 c.497T>C p.Leu166Pro Missense 6/12 -
21-27269903-TTC-AAC APP c.2044_2046delGAAinsAAC p.Glu682Asn Missense 16/18 -
21-27264073-C-G APP c.2172G>C p.Lys724Asn Missense 17/18 -
14-73640362-A-T PSEN1 c.427A>T p.Ile143Phe Missense 5/12 -
19-1056492-G-T ABCA7 c.4580G>T p.Gly1527Val Missense 33/47 -
14-73659480-T-G PSEN1 c.677T>G p.Leu226Arg Missense 7/12 -
14-73659468-A-G PSEN1 c.665A>G p.Gln222Arg Missense 7/12 -
19-1056492-G-C ABCA7 c.4580G>C p.Gly1527Ala Missense 33/47 -
14-73640363-T-A PSEN1 c.428T>A p.Ile143Asn Missense 5/12 -
14-73640363-T-C PSEN1 c.428T>C p.Ile143Thr Missense 5/12 -
14-73653567-C-T PSEN1 c.487C>T p.His163Tyr Missense 6/12 -
21-27264165-C-T APP c.2080G>A p.Asp694Asn Missense 17/18 -
14-73664826-T-C PSEN1 c.857T>C p.Leu286Pro Missense 8/12 -
14-73683845-C-G PSEN1 c.1141C>G p.Leu381Val Missense 11/12 -
14-73659494-G-A PSEN1 c.691G>A p.Ala231Thr Missense 7/12 -
14-73659469-G-C PSEN1 c.666G>C p.Gln222His Missense 7/12 -
14-73659501-T-C PSEN1 c.698T>C p.Met233Thr Missense 7/12 -
14-73664808-A-G PSEN1 c.839A>G p.Glu280Gly Missense 8/12 -
14-73640339-A-G PSEN1 c.404A>G p.Asn135Ser Missense 5/12 -
21-27264077-A-G APP c.2168T>C p.Leu723Pro Missense 17/18 -
14-73640342-C-G PSEN1 c.407C>G p.Ala136Gly Missense 5/12 -
14-73683837-G-T PSEN1 c.1133G>T p.Gly378Val Missense 11/12 -
14-73664813-C-T PSEN1 c.844C>T p.Leu282Phe Missense 8/12 -
21-27264105-T-C APP c.2140A>G p.Thr714Ala Missense 17/18 -
14-73640352-G-C PSEN1 c.417G>C p.Met139Ile Missense 5/12 -
14-73640352-G-A PSEN1 c.417G>A p.Met139Ile Missense 5/12 -
14-73640352-G-T PSEN1 c.417G>T p.Met139Ile Missense 5/12 -
14-73659495-C-T PSEN1 c.692C>T p.Ala231Val Missense 7/12 -
14-73637706-G-T PSEN1 c.289G>T p.Val97Leu Missense 4/12 -
14-73685899-C-T PSEN1 c.1306C>T p.Pro436Ser Missense 12/12 -
14-73683855-G-C PSEN1 c.1151G>C p.Gly384Ala Missense 11/12 -
14-73653592-T-C PSEN1 c.512T>C p.Leu171Pro Missense 6/12 -
14-73659514-T-A PSEN1 c.711T>A p.Phe237Leu Missense 7/12 -
2-127826590-CC-AT BIN1 c.428_429delGGinsAT p.Arg143His Missense 6/19 -
14-73683879-T-C PSEN1 c.1175T>C p.Leu392Pro Missense 11/12 -
21-27264099-T-A APP c.2146A>T p.Ile716Phe Missense 17/18 -
21-27269917-C-T APP c.2032G>A p.Asp678Asn Missense 16/18 -
14-73640395-T-A PSEN1 c.460T>A p.Tyr154Asn Missense 5/12 -
14-73637706-G-C PSEN1 c.289G>C p.Val97Leu Missense 4/12 -
14-73640295-A-C PSEN1 c.360A>C p.Glu120Asp Missense 5/12 -
14-73659536-A-C PSEN1 c.733A>C p.Thr245Pro Missense 7/12 -
14-73637730-T-G PSEN1 c.313T>G p.Phe105Val Missense 4/12 -
14-73659419-G-A PSEN1 c.616G>A p.Gly206Ser Missense 7/12 -
19-6719240-CCAT-C C3 c.247_249delATG p.Met83delMet InFrameDeletion 2/41 -
1-207692049-A-T CR1 c.488-4907A>T - IntronicSNV - 4/38
1-227071449-G-A PSEN2 c.185G>A p.Arg62His Missense 5/13 -
14-73659355-A-C PSEN1 c.552A>C p.Glu184Asp Missense 7/12 -
14-73653600-C-A PSEN1 c.520C>A p.Leu174Met Missense 6/12 -
14-73678594-G-A PSEN1 c.1073G>A p.Arg358Gln Missense 10/12 -
14-73659502-G-C PSEN1 c.699G>C p.Met233Ile Missense 7/12 -
1-227071475-C-T PSEN2 c.211C>T p.Arg71Trp Missense 5/13 -
21-27264101-A-G APP c.2144T>C p.Val715Ala Missense 17/18 -
14-73659355-A-T PSEN1 c.552A>T p.Glu184Asp Missense 7/12 -
14-73653612-T-C PSEN1 c.532T>C p.Ser178Pro Missense 6/12 -
14-73659512-T-A PSEN1 c.709T>A p.Phe237Ile Missense 7/12 -
14-73637730-T-C PSEN1 c.313T>C p.Phe105Leu Missense 4/12 -
14-73637730-T-A PSEN1 c.313T>A p.Phe105Ile Missense 4/12 -
19-1046520-T-G ABCA7 c.1622+115T>G - IntronicSNV - 13/46
14-73653586-C-T PSEN1 c.506C>T p.Ser169Leu Missense 6/12 -
1-227075813-A-G PSEN2 c.520A>G p.Met174Val Missense 7/13 -
14-73653599-G-T PSEN1 c.519G>T p.Leu173Phe Missense 6/12 -
14-73659488-A-T PSEN1 c.685A>T p.Ile229Phe Missense 7/12 -
14-73653599-G-C PSEN1 c.519G>C p.Leu173Phe Missense 6/12 -
14-73664774-C-G PSEN1 c.805C>G p.Arg269Gly Missense 8/12 -
14-73683873-G-T PSEN1 c.1169G>T p.Ser390Ile Missense 11/12 -
14-73673096-A-C PSEN1 c.871A>C p.Thr291Pro Missense 9/12 -
1-207784968-A-G CR1 c.4946-54A>G - IntronicSNV - 29/38
14-73637671-T-C PSEN1 c.254T>C p.Leu85Pro Missense 4/12 -
14-73637732-T-A PSEN1 c.315T>A p.Phe105Leu Missense 4/12 -
14-73637732-T-G PSEN1 c.315T>G p.Phe105Leu Missense 4/12 -
14-73659440-AT-CC PSEN1 c.637_638delATinsCC p.Ile213Pro Missense 7/12 -
14-73664820-C-T PSEN1 c.851C>T p.Pro284Leu Missense 8/12 -
14-73683861-T-C PSEN1 c.1157T>C p.Phe386Ser Missense 11/12 -
14-73653568-A-C PSEN1 c.488A>C p.His163Pro Missense 6/12 -
14-73653568-A-G PSEN1 c.488A>G p.His163Arg Missense 6/12 -
1-227071518-C-T PSEN2 c.254C>T p.Ala85Val Missense 5/13 -
14-73637661-G-T PSEN1 c.244G>T p.Val82Leu Missense 4/12 -
14-73653575-G-C PSEN1 c.495G>C p.Trp165Cys Missense 6/12 -
14-73664748-C-T PSEN1 c.779C>T p.Ala260Val Missense 8/12 -
14-73653575-G-T PSEN1 c.495G>T p.Trp165Cys Missense 6/12 -
14-73659520-G-T PSEN1 c.717G>T p.Lys239Asn Missense 7/12 -
14-73659440-A-C PSEN1 c.637A>C p.Ile213Leu Missense 7/12 -
14-73664787-A-C PSEN1 c.818A>C p.Glu273Ala Missense 8/12 -
21-27264086-A-G APP c.2159T>C p.Leu720Ser Missense 17/18 -
14-73640282-C-T PSEN1 c.347C>T p.Thr116Ile Missense 5/12 -
14-73664802-G-T PSEN1 c.833G>T p.Arg278Ile Missense 8/12 -
14-73664802-G-A PSEN1 c.833G>A p.Arg278Lys Missense 8/12 -
14-73664802-G-C PSEN1 c.833G>C p.Arg278Thr Missense 8/12 -
14-73640294-A-G PSEN1 c.359A>G p.Glu120Gly Missense 5/12 -
14-73659420-G-C PSEN1 c.617G>C p.Gly206Ala Missense 7/12 -
14-73659420-G-T PSEN1 c.617G>T p.Gly206Val Missense 7/12 -
21-27264170-G-C APP c.2075C>G p.Ala692Gly Missense 17/18 -
14-73659570-A-C PSEN1 c.767A>C p.Tyr256Ser Missense 7/12 -
14-73640282-C-A PSEN1 c.347C>A p.Thr116Asn Missense 5/12 -
14-73659520-G-C PSEN1 c.717G>C p.Lys239Asn Missense 7/12 -
1-227083249-A-C PSEN2 c.1316A>C p.Asp439Ala Missense 13/13 -
14-73640278-T-C PSEN1 c.343T>C p.Tyr115His Missense 5/12 -
14-73637697-G-A PSEN1 c.280G>A p.Val94Met Missense 4/12 -
14-73640375-C-T PSEN1 c.440C>T p.Thr147Ile Missense 5/12 -
14-73640362-A-G PSEN1 c.427A>G p.Ile143Val Missense 5/12 -
14-73653582-TATA-T PSEN1 c.502_504delATA p.Ile168delIle InFrameDeletion 6/12 -
14-73659420-G-A PSEN1 c.617G>A p.Gly206Asp Missense 7/12 -
14-73640302-G-A PSEN1 c.367G>A p.Glu123Lys Missense 5/12 -
15-59009885-C-A ADAM10 c.97G>T p.Glu33* Nonsense 2/16 -
14-73678614-T-G PSEN1 c.1093T>G p.Ser365Ala Missense 10/12 -
14-73637682-G-C PSEN1 c.265G>C p.Val89Leu Missense 4/12 -
14-73653576-GCTT-G PSEN1 c.496_498delCTT p.Leu166delLeu InFrameDeletion 6/12 -
14-73640284-C-G PSEN1 c.349C>G p.Pro117Ala Missense 5/12 -
14-73685911-CACC-C PSEN1 c.1318_1320delACC p.Thr440delThr InFrameDeletion 12/12 -
14-73664757-G-T PSEN1 c.788G>T p.Cys263Phe Missense 8/12 -
14-73659500-A-C PSEN1 c.697A>C p.Met233Leu Missense 7/12 -
21-27264102-C-T APP c.2143G>A p.Val715Met Missense 17/18 -
14-73637691-T-A PSEN1 c.274T>A p.Cys92Ser Missense 4/12 -
14-73664775-G-A PSEN1 c.806G>A p.Arg269His Missense 8/12 -
14-73640284-C-T PSEN1 c.349C>T p.Pro117Ser Missense 5/12 -
14-73659546-T-G PSEN1 c.743T>G p.Leu248Arg Missense 7/12 -
21-27264104-G-A APP c.2141C>T p.Thr714Ile Missense 17/18 -
14-73659506-C-G PSEN1 c.703C>G p.Leu235Val Missense 7/12 -
10-101658585-T-C DNMBP c.2703-68A>G - IntronicSNV - 7/16
14-73653573-T-G PSEN1 c.493T>G p.Trp165Gly Missense 6/12 -
14-73685863-C-T PSEN1 c.1270C>T p.Leu424Phe Missense 12/12 -
14-73685863-C-G PSEN1 c.1270C>G p.Leu424Val Missense 12/12 -
14-73640364-T-G PSEN1 c.429T>G p.Ile143Met Missense 5/12 -
14-73664803-A-C PSEN1 c.834A>C p.Arg278Ser Missense 8/12 -
14-73664803-A-T PSEN1 c.834A>T p.Arg278Ser Missense 8/12 -
14-73683875-G-T PSEN1 c.1171G>T p.Val391Phe Missense 11/12 -
14-73653611-T-A PSEN1 c.531T>A p.Phe177Leu Missense 6/12 -
14-73653611-T-G PSEN1 c.531T>G p.Phe177Leu Missense 6/12 -
14-73659438-C-A PSEN1 c.635C>A p.Ser212Tyr Missense 7/12 -
21-27264116-A-C APP c.2129T>G p.Val710Gly Missense 17/18 -
11-85725937-C-T PICALM c.522G>A p.Gln174Gln Synonymous 5/20 -
1-207692049-A-G CR1 c.488-4907A>G - IntronicSNV - 4/38
14-73637703-G-T PSEN1 c.286G>T p.Val96Phe Missense 4/12 -
14-73664790-C-G PSEN1 c.821C>G p.Thr274Arg Missense 8/12 -
14-73685909-T-G PSEN1 c.1316T>G p.Ile439Ser Missense 12/12 -
14-73659441-T-C PSEN1 c.638T>C p.Ile213Thr Missense 7/12 -
14-73683885-G-T PSEN1 c.1181G>T p.Gly394Val Missense 11/12 -
14-73664814-T-G PSEN1 c.845T>G p.Leu282Arg Missense 8/12 -
14-73659429-G-A PSEN1 c.626G>A p.Gly209Glu Missense 7/12 -
14-73685893-GC-TG PSEN1 c.1300_1301delGCinsTG p.Ala434Cys Missense 12/12 -
14-73659540-C-A PSEN1 c.737C>A p.Ala246Glu Missense 7/12 -
14-73640293-G-A PSEN1 c.358G>A p.Glu120Lys Missense 5/12 -
1-227076678-A-G PSEN2 c.715A>G p.Met239Val Missense 8/13 -
14-73653628-G-T PSEN1 c.548G>T p.Gly183Val Missense 6/12 -
14-73685900-C-A PSEN1 c.1307C>A p.Pro436Gln Missense 12/12 -
14-73683918-A-G PSEN1 c.1214A>G p.Asn405Ser Missense 11/12 -
14-73637653-C-T PSEN1 c.236C>T p.Ala79Val Missense 4/12 -