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rs387906971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906971(C;T)
Make rs387906971(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position1653558
GenePRPF8
is asnp
is mentioned by
dbSNPrs387906971
ebirs387906971
HLIrs387906971
Exacrs387906971
Varsomers387906971
Maprs387906971
PheGenIrs387906971
hapmaprs387906971
1000 genomesrs387906971
hgdprs387906971
ensemblrs387906971
gopubmedrs387906971
geneviewrs387906971
scholarrs387906971
googlers387906971
pharmgkbrs387906971
gwascentralrs387906971
openSNPrs387906971
23andMers387906971
23andMe allrs387906971
SNP Nexus

SNPshotrs387906971
SNPdbers387906971
MSV3drs387906971
GWAS Ctlgrs387906971
Max Magnitude0
ClinVar
Risk rs387906971(T;T)
Alt rs387906971(T;T)
Reference rs387906971(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 13
Variation info
Gene PRPF8
CLNDBN Retinitis pigmentosa 13
Reversed 1
HGVS NC_000017.10:g.1556852G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023643.2,