Gene: CYP11A1 ×
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: rs1284060395
rs1284060395
CYP11A1
3 0.925 0.160 15 74339666 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1454328072
rs1454328072
CYP11A1
3 0.925 0.160 15 74339260 stop gained G/A snv 4.0E-06 0.010 1.000 1 2012 2012
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