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 0.050 1.000 5 2012 2014
dbSNP: rs1440530084
rs1440530084
COASY
3 0.882 0.040 17 42563227 missense variant G/A snv 4.0E-06 1.4E-05 0.030 1.000 3 2013 2017
dbSNP: rs761347168
rs761347168
COASY
1 1.000 17 42563226 missense variant C/T snv 8.0E-06 0.030 1.000 3 2013 2017
dbSNP: rs11554273
rs11554273
GNAS
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913494
rs121913494
GNAS
7 0.827 0.240 20 58909541 missense variant A/G;T snv 0.010 1.000 1 2007 2007