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: rs104894118
rs104894118
NR5A1
4 0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs121918654
rs121918654
NR5A1
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2003 2003
dbSNP: rs121918655
rs121918655
NR5A1
5 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010