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: rs1293441395
rs1293441395
PSAT1
2 0.925 0.080 9 78306457 missense variant T/A snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs2066479
rs2066479
HSD17B3
7 0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs749198869
rs749198869
HSD3B2
2 0.925 0.080 1 119422598 missense variant C/A snv 0.010 1.000 1 2002 2002
dbSNP: rs757284769
rs757284769
ELAC2
2 0.925 0.080 17 12996561 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2002 2002
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: rs137852593
rs137852593
AR
8 0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04 0.040 1.000 4 2000 2004
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2004 2004
dbSNP: rs1350533716
rs1350533716
PRDM2
2 0.925 0.080 1 13780080 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs761320613
rs761320613
PRDM2
2 0.925 0.080 1 13780842 missense variant C/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs778212685
rs778212685
CHEK2
8 0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs786203472
rs786203472
CHEK2
5 0.827 0.120 22 28719414 start lost T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs863224748
rs863224748
CHEK2
5 0.827 0.120 22 28734721 start lost T/C snv 0.010 1.000 1 2004 2004
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: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2004 2005
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.020 1.000 2 2001 2005
dbSNP: rs1380328511
rs1380328511
KLF6
2 0.925 0.080 10 3781694 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs2854746
rs2854746
IGFBP3
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.010 < 0.001 1 2005 2005
dbSNP: rs369108477
rs369108477
MSR1
2 0.925 0.080 8 16143592 synonymous variant G/A snv 0.010 < 0.001 1 2005 2005
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs6098
rs6098
SERPINB2
2 0.925 0.080 18 63897160 missense variant A/G;T snv 0.28; 4.0E-06 0.010 1.000 1 2005 2005