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: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
5 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.010 1.000 1 2006 2006