Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893790(A;A)
Make rs104893790(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129529002
GeneRHO
is asnp
is mentioned by
dbSNPrs104893790
dbSNP (classic)rs104893790
ClinGenrs104893790
ebirs104893790
HLIrs104893790
Exacrs104893790
Gnomadrs104893790
Varsomers104893790
LitVarrs104893790
Maprs104893790
PheGenIrs104893790
Biobankrs104893790
1000 genomesrs104893790
hgdprs104893790
ensemblrs104893790
geneviewrs104893790
scholarrs104893790
googlers104893790
pharmgkbrs104893790
gwascentralrs104893790
openSNPrs104893790
23andMers104893790
SNPshotrs104893790
SNPdbers104893790
MSV3drs104893790
GWAS Ctlgrs104893790
Max Magnitude0
OMIM180380
Desc
Variant0032
Relatedalso
ClinVar
Risk rs104893790(A;A)
Alt rs104893790(A;A)
Reference Rs104893790(G;G)
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.129247845G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013920.17,