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rs121434240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434240(C;G)
Make rs121434240(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position1650898
GenePRPF8, RILP
is asnp
is mentioned by
dbSNPrs121434240
ebirs121434240
HLIrs121434240
Exacrs121434240
Varsomers121434240
Maprs121434240
PheGenIrs121434240
hapmaprs121434240
1000 genomesrs121434240
hgdprs121434240
ensemblrs121434240
gopubmedrs121434240
geneviewrs121434240
scholarrs121434240
googlers121434240
pharmgkbrs121434240
gwascentralrs121434240
openSNPrs121434240
23andMers121434240
23andMe allrs121434240
SNP Nexus

SNPshotrs121434240
SNPdbers121434240
MSV3drs121434240
GWAS Ctlgrs121434240
Max Magnitude0
OMIM607300
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434240(G,T;G,T)
Alt rs121434240(G,T;G,T)
Reference rs121434240(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 13
Variation info
Gene RILP PRPF8
CLNDBN Retinitis pigmentosa 13
Reversed 1
HGVS NC_000017.10:g.1554192G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003523.2,