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: rs886039769
rs886039769
NR5A1
10 0.807 0.160 9 124500686 missense variant G/A snv 0.030 1.000 3 2017 2019
dbSNP: rs1173716957
rs1173716957
HHAT
3 1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1174735311
rs1174735311
SSRP1
1 11 57333513 missense variant T/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs119481075
rs119481075
HSD17B3
4 0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs121918654
rs121918654
NR5A1
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs775130992
rs775130992
STAR
3 1.000 0.040 8 38146310 missense variant G/T snv 4.0E-06 0.010 1.000 1 2010 2010