GNB3, G protein subunit beta 3, 2784

N. diseases: 192; N. variants: 10
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140263599
rs140263599
Entrez Id: 2784
Gene Symbol: GNB3
GNB3
CUI: C4310758
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H 		0.800 GeneticVariation UNIPROT Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. 27063057 2016
dbSNP: rs140263599
rs140263599
Entrez Id: 2784
Gene Symbol: GNB3
GNB3
CUI: C4310758
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H 		T 0.800 CausalMutation CLINVAR