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rs104893775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893775(C;T)
Make rs104893775(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129530917
GeneRHO
is asnp
is mentioned by
dbSNPrs104893775
dbSNP (classic)rs104893775
ClinGenrs104893775
ebirs104893775
HLIrs104893775
Exacrs104893775
Gnomadrs104893775
Varsomers104893775
LitVarrs104893775
Maprs104893775
PheGenIrs104893775
Biobankrs104893775
1000 genomesrs104893775
hgdprs104893775
ensemblrs104893775
geneviewrs104893775
scholarrs104893775
googlers104893775
pharmgkbrs104893775
gwascentralrs104893775
openSNPrs104893775
23andMers104893775
SNPshotrs104893775
SNPdbers104893775
MSV3drs104893775
GWAS Ctlgrs104893775
Max Magnitude0
OMIM180380
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893775(T;T)
Alt rs104893775(T;T)
Reference Rs104893775(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 4 Retinitis punctata albescens Retinitis pigmentosa not provided
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4 Retinitis punctata albescens Retinitis pigmentosa not provided
Reversed 0
HGVS NC_000003.11:g.129249760C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013902.24, RCV000013903.24, RCV000132597.1, RCV000413771.1,