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: rs121913494
rs121913494
GNAS
7 0.827 0.240 20 58909541 missense variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1386577803
rs1386577803
AR
4 0.851 0.240 X 67722872 missense variant G/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs763296857
rs763296857
SRD5A2
3 0.882 0.200 2 31529427 missense variant T/C snv 1.6E-05 2.8E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs9332969
rs9332969
AR
5 0.827 0.240 X 67722899 missense variant G/A;T snv 0.010 < 0.001 1 2019 2019