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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs28730726
rs28730726
NPR1
1 1.000 0.080 1 153681281 missense variant G/C snv 8.6E-03 3.9E-03 0.010 1.000 1 2003 2003
dbSNP: rs537765533
rs537765533
IL1RN
3 0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2003 2003
dbSNP: rs749785846
rs749785846
FGB
2 0.925 0.160 4 154568469 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs779647096
rs779647096
PLG
3 0.882 0.080 6 160718313 synonymous variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.040 0.750 4 1995 2004
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.030 1.000 3 2002 2004
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.720 1.000 2 2003 2004
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.020 1.000 2 2003 2004
dbSNP: rs544456198
rs544456198
LDLR
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.020 1.000 2 2003 2004
dbSNP: rs752596535
rs752596535
LDLR
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.020 1.000 2 2003 2004
dbSNP: rs1042034
rs1042034
APOB
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2004 2004
dbSNP: rs1367117
rs1367117
APOB
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2004 2004
dbSNP: rs1458301734
rs1458301734
APOE
1 1.000 0.080 19 44908687 missense variant G/A;T snv 5.9E-06 0.010 1.000 1 2004 2004
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2004 2004
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2004 2004
dbSNP: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs369066087
rs369066087
APOA1 ; APOA1-AS
1 1.000 0.080 11 116837117 synonymous variant G/A;C snv 2.0E-05 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2004 2004
dbSNP: rs539179964
rs539179964
RIMS2
3 0.882 0.080 8 104248720 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.710 1.000 1 2004 2004
dbSNP: rs868094551
rs868094551
APOE
1 1.000 0.080 19 44908768 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.020 1.000 2 2003 2005