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rs104893781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893781(C;T)
Make rs104893781(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129532636
GeneRHO
is asnp
is mentioned by
dbSNPrs104893781
dbSNP (classic)rs104893781
ClinGenrs104893781
ebirs104893781
HLIrs104893781
Exacrs104893781
Gnomadrs104893781
Varsomers104893781
LitVarrs104893781
Maprs104893781
PheGenIrs104893781
Biobankrs104893781
1000 genomesrs104893781
hgdprs104893781
ensemblrs104893781
geneviewrs104893781
scholarrs104893781
googlers104893781
pharmgkbrs104893781
gwascentralrs104893781
openSNPrs104893781
23andMers104893781
SNPshotrs104893781
SNPdbers104893781
MSV3drs104893781
GWAS Ctlgrs104893781
Max Magnitude0
OMIM180380
Desc
Variant0022
Relatedalso
ClinVar
Risk rs104893781(T;T)
Alt rs104893781(T;T)
Reference Rs104893781(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4
Reversed 0
HGVS NC_000003.11:g.129251479C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013909.24,