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rs121918590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTG;CTG) 0 common in clinvar
(I;I) 0 common genotype
(TGC;TGC) 0 common in clinvar
Make rs121918590(-;-)
Make rs121918590(-;TGC)
ReferenceGRCh38 38.1/141
Chromosome3
Position129532626
GeneRHO
is asnp
is mentioned by
dbSNPrs121918590
dbSNP (classic)rs121918590
ClinGenrs121918590
ebirs121918590
HLIrs121918590
Exacrs121918590
Gnomadrs121918590
Varsomers121918590
LitVarrs121918590
Maprs121918590
PheGenIrs121918590
Biobankrs121918590
1000 genomesrs121918590
hgdprs121918590
ensemblrs121918590
geneviewrs121918590
scholarrs121918590
googlers121918590
pharmgkbrs121918590
gwascentralrs121918590
openSNPrs121918590
23andMers121918590
SNPshotrs121918590
SNPdbers121918590
MSV3drs121918590
GWAS Ctlgrs121918590
Max Magnitude0
OMIM180380
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121918590(-;-)
Alt rs121918590(-;-)
Reference Rs121918590(CTG;CTG)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4
Reversed 0
HGVS NC_000003.11:g.129251469_129251471delTGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013926.24,