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: rs1440530084
rs1440530084
COASY
3 0.882 0.040 17 42563227 missense variant G/A snv 4.0E-06 1.4E-05 0.020 1.000 2 2017 2017
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2017 2017