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: rs11554273
rs11554273
GNAS
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 0
dbSNP: rs1057519865
rs1057519865
FOXL2 ; FOXL2NB
15 0.742 0.240 3 138946321 missense variant G/C snv 0.010 1.000 1 2011 2011