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rs104893794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893794(C;T)
Make rs104893794(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129531025
GeneRHO
is asnp
is mentioned by
dbSNPrs104893794
dbSNP (classic)rs104893794
ClinGenrs104893794
ebirs104893794
HLIrs104893794
Exacrs104893794
Gnomadrs104893794
Varsomers104893794
LitVarrs104893794
Maprs104893794
PheGenIrs104893794
Biobankrs104893794
1000 genomesrs104893794
hgdprs104893794
ensemblrs104893794
geneviewrs104893794
scholarrs104893794
googlers104893794
pharmgkbrs104893794
gwascentralrs104893794
openSNPrs104893794
23andMers104893794
SNPshotrs104893794
SNPdbers104893794
MSV3drs104893794
GWAS Ctlgrs104893794
Max Magnitude0
OMIM180380
Desc
Variant0038
Relatedalso
ClinVar
Risk rs104893794(T;T)
Alt rs104893794(T;T)
Reference Rs104893794(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4
Reversed 0
HGVS NC_000003.11:g.129249868C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013925.24,