Gene: NR5A1 ×
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: rs121918654
rs121918654
NR5A1
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018