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rs104893769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893769(C;T)
Make rs104893769(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129528783
GeneRHO
is asnp
is mentioned by
dbSNPrs104893769
dbSNP (classic)rs104893769
ClinGenrs104893769
ebirs104893769
HLIrs104893769
Exacrs104893769
Gnomadrs104893769
Varsomers104893769
LitVarrs104893769
Maprs104893769
PheGenIrs104893769
Biobankrs104893769
1000 genomesrs104893769
hgdprs104893769
ensemblrs104893769
geneviewrs104893769
scholarrs104893769
googlers104893769
pharmgkbrs104893769
gwascentralrs104893769
openSNPrs104893769
23andMers104893769
SNPshotrs104893769
SNPdbers104893769
MSV3drs104893769
GWAS Ctlgrs104893769
Max Magnitude0
OMIM180380
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893769(T;T)
Alt rs104893769(T;T)
Reference Rs104893769(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4
Reversed 0
HGVS NC_000003.11:g.129247626C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013892.24,