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: 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: 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: 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: 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: 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: rs148678804
rs148678804 		2 1.000 0.040 10 22138360 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs2364480
rs2364480
LTBR
2 0.925 0.120 12 6386109 synonymous variant C/A;T snv 0.77; 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs2555019
rs2555019 		3 1.000 0.040 12 114230813 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2735839
rs2735839 		7 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs36067435
rs36067435
ELOVL6
1 1.000 0.040 4 110180390 intron variant -/TTAT delins 0.700 1.000 1 2019 2019
dbSNP: rs3797177
rs3797177
SRD5A1
1 1.000 0.040 5 6666971 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs4548546
rs4548546
WDR11
3 1.000 0.040 10 120870067 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4792311
rs4792311
ELAC2
9 0.776 0.160 17 13011692 missense variant G/A;C snv 0.27 0.010 1.000 1 2001 2001
dbSNP: rs6061244
rs6061244
GATA5
2 1.000 0.040 20 62466597 intron variant G/A;C snv 1.3E-03; 0.38 0.700 1.000 1 2018 2018
dbSNP: rs6078585
rs6078585 		1 1.000 0.040 20 12447612 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs677394
rs677394
C5orf66
2 1.000 0.040 5 135271869 intron variant G/C;T snv 0.700 1.000 1 2018 2018
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: rs9958656
rs9958656
LOC101927548
2 1.000 0.040 18 22324181 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018