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rs104893740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893740(A;A)
Make rs104893740(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position50193139
GeneGNAT1
is asnp
is mentioned by
dbSNPrs104893740
ebirs104893740
HLIrs104893740
Exacrs104893740
Varsomers104893740
Maprs104893740
PheGenIrs104893740
hapmaprs104893740
1000 genomesrs104893740
hgdprs104893740
ensemblrs104893740
gopubmedrs104893740
geneviewrs104893740
scholarrs104893740
googlers104893740
pharmgkbrs104893740
gwascentralrs104893740
openSNPrs104893740
23andMers104893740
23andMe allrs104893740
SNP Nexus

SNPshotrs104893740
SNPdbers104893740
MSV3drs104893740
GWAS Ctlgrs104893740
Max Magnitude0
OMIM139330
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893740(A;A)
Alt rs104893740(A;A)
Reference Rs104893740(G;G)
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.50230572G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017277.28,