Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs62643364
rs62643364
PRNP
7 0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2000 2000
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63751141
rs63751141
PSEN1
3 0.882 0.080 14 73170984 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63751254
rs63751254
PSEN1
4 0.851 0.160 14 73217210 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs769491680
rs769491680
LRP1
1 1.000 0.080 12 57156809 missense variant G/A snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs781215285
rs781215285
APP
1 1.000 0.080 21 26051030 missense variant C/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs964793521
rs964793521
CASP3
2 0.925 0.080 4 184638460 5 prime UTR variant C/T snv 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs63750579
rs63750579
APP
13 0.742 0.280 21 25891856 missense variant C/G;T snv 0.020 1.000 2 2000 2002
dbSNP: rs1057520247
rs1057520247
BRCA2
5 0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
5 0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283
FANCD2
5 0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs63750815
rs63750815
PSEN1
3 0.882 0.080 14 73170974 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs774471127
rs774471127
SGSM3
1 1.000 0.080 22 40407252 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs865862446
rs865862446
FANCD2
5 0.882 0.200 3 10049416 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs747760223
rs747760223
RPSA
3 0.882 0.120 3 39412034 missense variant T/C snv 4.0E-06 7.0E-06 0.060 1.000 6 1998 2003
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.040 0.750 4 1999 2003
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2003 2003
dbSNP: rs1189501362
rs1189501362
GSK3B
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774
AHSA1
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1235948930
rs1235948930
MAPT
4 0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1281129992
rs1281129992
APP
3 0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1369330655
rs1369330655
CTSD
2 0.925 0.080 11 1761421 missense variant A/G snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs199887707
rs199887707
APP
3 0.882 0.080 21 25911840 missense variant C/T snv 3.8E-04 4.9E-04 0.010 1.000 1 2003 2003
dbSNP: rs2071421
rs2071421
ARSA
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2003 2003