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rs104893779

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893779(A;A)
Make rs104893779(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129532288
GeneRHO
is asnp
is mentioned by
dbSNPrs104893779
dbSNP (classic)rs104893779
ClinGenrs104893779
ebirs104893779
HLIrs104893779
Exacrs104893779
Gnomadrs104893779
Varsomers104893779
LitVarrs104893779
Maprs104893779
PheGenIrs104893779
Biobankrs104893779
1000 genomesrs104893779
hgdprs104893779
ensemblrs104893779
geneviewrs104893779
scholarrs104893779
googlers104893779
pharmgkbrs104893779
gwascentralrs104893779
openSNPrs104893779
23andMers104893779
SNPshotrs104893779
SNPdbers104893779
MSV3drs104893779
GWAS Ctlgrs104893779
Merged fromRs28933992
Max Magnitude0
OMIM180380
Desc
Variant0027
Relatedalso
OMIM180380
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104893779(A;A) rs104893779(T;T)
Alt rs104893779(A;A) rs104893779(T;T)
Reference Rs104893779(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4
Reversed 0
HGVS NC_000003.11:g.129251131G>A; NC_000003.11:g.129251131G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013897.24, RCV000013915.17,