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: rs104894119
rs104894119
NR5A1
7 0.807 0.160 9 124500685 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1213451480
rs1213451480
NR5A1
2 1.000 0.120 9 124500652 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121434244
rs121434244
SRD5A2
2 1.000 0.200 2 31526225 missense variant G/A snv 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1217623435
rs1217623435
ESR2
1 14 64235099 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121907900
rs121907900
WT1
11 0.763 0.200 11 32392020 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121918654
rs121918654
NR5A1
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1443135220
rs1443135220
EPHA3
1 3 89210100 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs267599353
rs267599353
SRD5A2
3 0.925 0.200 2 31533741 stop gained G/A;T snv 2.2E-05; 9.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs747724352
rs747724352
HSD17B3
3 0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs773720185
rs773720185
HSD17B3 ; HSD17B3-AS1
2 1.000 0.160 9 96245373 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2017 2017