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rs104893796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893796(C;T)
Make rs104893796(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129529014
GeneRHO
is asnp
is mentioned by
dbSNPrs104893796
ebirs104893796
HLIrs104893796
Exacrs104893796
Varsomers104893796
Maprs104893796
PheGenIrs104893796
hapmaprs104893796
1000 genomesrs104893796
hgdprs104893796
ensemblrs104893796
gopubmedrs104893796
geneviewrs104893796
scholarrs104893796
googlers104893796
pharmgkbrs104893796
gwascentralrs104893796
openSNPrs104893796
23andMers104893796
23andMe allrs104893796
SNP Nexus

SNPshotrs104893796
SNPdbers104893796
MSV3drs104893796
GWAS Ctlgrs104893796
Max Magnitude0
OMIM180380
Desc
Variant0042
Relatedalso
ClinVar
Risk rs104893796(T;T)
Alt rs104893796(T;T)
Reference Rs104893796(C;C)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene RHO
CLNDBN Congenital stationary night blindness, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.129247857C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013929.24,