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rs121434242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434242(C;T)
Make rs121434242(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position150344212
GenePRPF3
is asnp
is mentioned by
dbSNPrs121434242
ebirs121434242
HLIrs121434242
Exacrs121434242
Varsomers121434242
Maprs121434242
PheGenIrs121434242
hapmaprs121434242
1000 genomesrs121434242
hgdprs121434242
ensemblrs121434242
gopubmedrs121434242
geneviewrs121434242
scholarrs121434242
googlers121434242
pharmgkbrs121434242
gwascentralrs121434242
openSNPrs121434242
23andMers121434242
23andMe allrs121434242
SNP Nexus

SNPshotrs121434242
SNPdbers121434242
MSV3drs121434242
GWAS Ctlgrs121434242
Max Magnitude0
OMIM607301
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434242(T;T)
Alt rs121434242(T;T)
Reference rs121434242(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 18
Variation info
Gene PRPF3
CLNDBN Retinitis pigmentosa 18
Reversed 0
HGVS NC_000001.10:g.150316688C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003517.2,