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rs104893789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893789(A;A)
Make rs104893789(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position129532711
GeneRHO
is asnp
is mentioned by
dbSNPrs104893789
ebirs104893789
HLIrs104893789
Exacrs104893789
Varsomers104893789
Maprs104893789
PheGenIrs104893789
hapmaprs104893789
1000 genomesrs104893789
hgdprs104893789
ensemblrs104893789
gopubmedrs104893789
geneviewrs104893789
scholarrs104893789
googlers104893789
pharmgkbrs104893789
gwascentralrs104893789
openSNPrs104893789
23andMers104893789
23andMe allrs104893789
SNP Nexus

SNPshotrs104893789
SNPdbers104893789
MSV3drs104893789
GWAS Ctlgrs104893789
Max Magnitude0
OMIM180380
Desc
Variant0031
Relatedalso
ClinVar
Risk rs104893789(A;A)
Alt rs104893789(A;A)
Reference rs104893789(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.129251554C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013919.17,