Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776829
rs587776829
G 0.700 CausalMutation CLINVAR GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. 25219572

2015

dbSNP: rs587776829
rs587776829
G 0.700 CausalMutation CLINVAR Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. 23796510

2013

dbSNP: rs1057518907
rs1057518907
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854530
rs137854530
G 0.700 CausalMutation CLINVAR