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rs121434239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434239(A;A)
Make rs121434239(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position1650909
GenePRPF8, RILP
is asnp
is mentioned by
dbSNPrs121434239
ebirs121434239
HLIrs121434239
Exacrs121434239
Varsomers121434239
Maprs121434239
PheGenIrs121434239
hapmaprs121434239
1000 genomesrs121434239
hgdprs121434239
ensemblrs121434239
gopubmedrs121434239
geneviewrs121434239
scholarrs121434239
googlers121434239
pharmgkbrs121434239
gwascentralrs121434239
openSNPrs121434239
23andMers121434239
23andMe allrs121434239
SNP Nexus

SNPshotrs121434239
SNPdbers121434239
MSV3drs121434239
GWAS Ctlgrs121434239
Max Magnitude0
OMIM607300
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434239(A;A)
Alt rs121434239(A;A)
Reference rs121434239(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 13
Variation info
Gene RILP PRPF8
CLNDBN Retinitis pigmentosa 13
Reversed 1
HGVS NC_000017.10:g.1554203G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003522.2,