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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs149709822
rs149709822
KLK3
4 0.882 0.080 19 50856335 missense variant G/A snv 4.0E-05 2.3E-04 0.020 0.500 2 2002 2005
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.060 0.667 6 2002 2017
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.080 0.875 8 2002 2017
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.020 1.000 2 2013 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2006 2016
dbSNP: rs10035432
rs10035432
C5orf46
1 1.000 0.040 5 147855193 upstream gene variant G/A snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs10054105
rs10054105
STARD4-AS1
3 0.925 0.080 5 111573636 intron variant T/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs103294
rs103294 		7 0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82 0.010 1.000 1 2013 2013
dbSNP: rs1034866440
rs1034866440
AR
4 0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06 0.010 1.000 1 2005 2005
dbSNP: rs1045531
rs1045531
PSCA
3 0.882 0.080 8 142682129 synonymous variant C/A snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs10459953
rs10459953
NOS2
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1047100
rs1047100
FGFR2
1 1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78 0.010 1.000 1 2013 2013
dbSNP: rs1057519912
rs1057519912
MED12
11 0.776 0.200 X 71129408 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10786938
rs10786938 		1 1.000 0.040 10 106280012 intergenic variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10983755
rs10983755 		7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs11084596
rs11084596 		3 1.000 0.040 19 31614073 regulatory region variant T/C snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs11199879
rs11199879 		3 1.000 0.040 10 121285698 regulatory region variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1126647
rs1126647
CXCL8
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2019 2019
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: rs115336889
rs115336889
ROPN1L
1 1.000 0.040 5 10454257 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11651052
rs11651052
HNF1B
7 0.851 0.200 17 37742390 intron variant G/A snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs12470143
rs12470143
SRD5A2
2 0.925 0.080 2 31538488 intron variant C/T snv 0.42 0.010 1.000 1 2017 2017