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: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.030 0.667 3 2003 2015
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 0.667 3 2003 2015
dbSNP: rs72552387
rs72552387
MSR1
3 0.882 0.080 8 16168568 missense variant C/A;G;T snv 1.6E-03; 4.0E-06 0.030 1.000 3 2003 2006
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.020 0.500 2 2003 2014
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2003 2016
dbSNP: rs121434249
rs121434249
SRD5A2
4 0.851 0.280 2 31529323 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1290923018
rs1290923018
ZNRD2 ; FAM89B ; ZNRD2-AS1
5 0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs137852571
rs137852571
AR
3 0.882 0.080 X 67717495 missense variant G/A snv 7.7E-05 1.9E-05 0.010 1.000 1 2003 2003
dbSNP: rs1450063773
rs1450063773
KLK3
3 0.925 0.080 19 50858491 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs267605077
rs267605077
TP53
3 0.925 0.080 17 7675212 missense variant A/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs72552787
rs72552787
PON1
2 0.925 0.080 7 95315388 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.750 16 2004 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.692 13 2004 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.727 11 2004 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.900 10 2004 2018
dbSNP: rs627928
rs627928
RNASEL
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.080 0.875 8 2004 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.070 0.857 7 2004 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.070 0.857 7 2004 2018
dbSNP: rs41341748
rs41341748
MSR1
6 0.827 0.120 8 16155085 stop gained G/A;C snv 8.3E-03; 2.8E-05 0.060 1.000 6 2004 2006
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.730 0.750 4 2004 2018
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.730 0.750 4 2004 2019
dbSNP: rs12329760
rs12329760
TMPRSS2
3 0.882 0.200 21 41480570 missense variant C/T snv 0.24 0.25 0.030 1.000 3 2004 2014
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2004 2008
dbSNP: rs74315364
rs74315364
RNASEL
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.030 1.000 3 2004 2005
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2004 2012