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rs121434238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434238(A;A)
Make rs121434238(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position1650881
GenePRPF8, RILP
is asnp
is mentioned by
dbSNPrs121434238
ebirs121434238
HLIrs121434238
Exacrs121434238
Varsomers121434238
Maprs121434238
PheGenIrs121434238
hapmaprs121434238
1000 genomesrs121434238
hgdprs121434238
ensemblrs121434238
gopubmedrs121434238
geneviewrs121434238
scholarrs121434238
googlers121434238
pharmgkbrs121434238
gwascentralrs121434238
openSNPrs121434238
23andMers121434238
23andMe allrs121434238
SNP Nexus

SNPshotrs121434238
SNPdbers121434238
MSV3drs121434238
GWAS Ctlgrs121434238
Max Magnitude0
OMIM607300
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434238(A;A)
Alt rs121434238(A;A)
Reference rs121434238(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 13
Variation info
Gene RILP PRPF8
CLNDBN Retinitis pigmentosa 13
Reversed 1
HGVS NC_000017.10:g.1554175C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003521.2,