Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750264
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 1.000 9 1991 2019
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.890 0.933 0 2005 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 0.882 0 2003 2016
dbSNP: rs193922916
rs193922916
APP
0.827 0.080 21 25897619 missense variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.740 1.000 0 2009 2017
dbSNP: rs63749810
rs63749810
APP
0.882 0.200 21 25891853 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.720 1.000 8 2001 2019
dbSNP: rs281865161
rs281865161
APP
0.925 0.080 21 25897626 missense variant TC/GA mnv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 3 1996 2013
dbSNP: rs1561901881
rs1561901881
CSF1R
1.000 0.080 5 150054414 missense variant C/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1561905293
rs1561905293
CSF1R
1.000 0.080 5 150056335 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566630910
rs1566630910
PSEN1
1.000 0.080 14 73173651 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566638673
rs1566638673
PSEN1
1.000 0.080 14 73186881 inframe insertion -/TAT delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566656702
rs1566656702
PSEN1
1.000 0.080 14 73217173 missense variant G/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1566657804
rs1566657804
PSEN1
1.000 0.080 14 73219182 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1567885728
rs1567885728
GRN
1.000 0.080 17 44349552 splice donor variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1568339995
rs1568339995
MAPT
1.000 0.080 17 46018704 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs63750219
rs63750219
PSEN1
1.000 0.080 14 73206385 splice acceptor variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs866101707
rs866101707
VCP
1.000 0.080 9 35066711 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0