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rs121434236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434236(A;G)
Make rs121434236(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position1650884
GenePRPF8, RILP
is asnp
is mentioned by
dbSNPrs121434236
ebirs121434236
HLIrs121434236
Exacrs121434236
Varsomers121434236
Maprs121434236
PheGenIrs121434236
hapmaprs121434236
1000 genomesrs121434236
hgdprs121434236
ensemblrs121434236
gopubmedrs121434236
geneviewrs121434236
scholarrs121434236
googlers121434236
pharmgkbrs121434236
gwascentralrs121434236
openSNPrs121434236
23andMers121434236
23andMe allrs121434236
SNP Nexus

SNPshotrs121434236
SNPdbers121434236
MSV3drs121434236
GWAS Ctlgrs121434236
Max Magnitude0
OMIM607300
Desc
Variant0001
Relatedalso
OMIM607300
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434236(C,G;C,G)
Alt rs121434236(C,G;C,G)
Reference rs121434236(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 13
Variation info
Gene RILP PRPF8
CLNDBN Retinitis pigmentosa 13
Reversed 1
HGVS NC_000017.10:g.1554178T>C; NC_000017.10:g.1554178T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003519.2, RCV000003520.2,