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rs786205853

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205853(C;G)
Make rs786205853(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position50194111
GeneGNAT1
is asnp
is mentioned by
dbSNPrs786205853
ebirs786205853
HLIrs786205853
Exacrs786205853
Varsomers786205853
Maprs786205853
PheGenIrs786205853
hapmaprs786205853
1000 genomesrs786205853
hgdprs786205853
ensemblrs786205853
gopubmedrs786205853
geneviewrs786205853
scholarrs786205853
googlers786205853
pharmgkbrs786205853
gwascentralrs786205853
openSNPrs786205853
23andMers786205853
23andMe allrs786205853
SNP Nexus

SNPshotrs786205853
SNPdbers786205853
MSV3drs786205853
GWAS Ctlgrs786205853
Max Magnitude0
ClinVar
Risk rs786205853(G;G)
Alt rs786205853(G;G)
Reference rs786205853(C;C)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene GNAT1
CLNDBN Congenital stationary night blindness, autosomal dominant 3
Reversed 0
HGVS NC_000003.11:g.50231544C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000171140.2,