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: rs6161
rs6161
CYP11A1
5 0.851 0.080 15 74343027 missense variant C/T snv 2.5E-03 2.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs121918654
rs121918654
NR5A1
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018