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: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1369330655
rs1369330655
CTSD
2 0.925 0.080 11 1761421 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs17571
rs17571
CTSD
6 0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02 0.010 1.000 1 2001 2001
dbSNP: rs1799999
rs1799999
PPP1R3A
4 0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 0.010 1.000 1 2002 2002
dbSNP: rs3730089
rs3730089
PIK3R1
5 0.827 0.280 5 68292320 missense variant G/A snv 0.18 0.22 0.010 1.000 1 2002 2002
dbSNP: rs63750207
rs63750207
PSEN2
1 1.000 0.080 1 226891773 missense variant C/G;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2003 2003
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2004 2004
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2004 2004
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2004 2004
dbSNP: rs766662990
rs766662990
CCL5 ; LOC105371744
4 0.851 0.120 17 35878529 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs746682028
rs746682028
BDNF ; BDNF-AS
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs759223338
rs759223338
BACE1 ; BACE1-AS
2 0.925 0.080 11 117291736 synonymous variant G/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs1051338
rs1051338
LIPA
7 0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26 0.010 1.000 1 2006 2006
dbSNP: rs2029721
rs2029721
PPM1H
1 1.000 0.080 12 62755564 non coding transcript exon variant G/A snv 0.29 0.010 1.000 1 2006 2006
dbSNP: rs2297472
rs2297472
LIPA
1 1.000 0.080 10 89225233 splice region variant G/A;C;T snv 0.29; 8.0E-06; 4.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs4417206
rs4417206
ALDH18A1
1 1.000 0.080 10 95636713 intron variant A/C snv 0.28 0.010 1.000 1 2006 2006
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.010 1.000 1 2006 2006
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2007 2007
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 < 0.001 1 2007 2007
dbSNP: rs3817622
rs3817622
PSENEN ; U2AF1L4
1 1.000 0.080 19 35746326 intron variant T/A snv 0.10 0.010 1.000 1 2007 2007
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.010 1.000 1 2007 2007