Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514457
rs397514457
GNAS
0.800 GeneticVariation UNIPROT Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction. 21488135

2011
dbSNP: rs397514457
rs397514457
GNAS
G 0.800 CausalMutation CLINVAR