Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893740
rs104893740
Entrez Id: 2779
Gene Symbol: GNAT1
GNAT1
CUI: C1864870
Disease:
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.800 GeneticVariation UNIPROT p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. 17584859 2007
dbSNP: rs104893740
rs104893740
Entrez Id: 2779
Gene Symbol: GNAT1
GNAT1
CUI: C1864870
Disease:
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.800 GeneticVariation UNIPROT Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 8673138 1996
dbSNP: rs104893740
rs104893740
Entrez Id: 2779
Gene Symbol: GNAT1
GNAT1
CUI: C1864870
Disease:
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		A 0.800 CausalMutation CLINVAR