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rs878853387

From SNPedia

Orientationminus
Geno Mag Summary
(AACTC;AACTC) 0 common in clinvar
Make rs878853387(-;-)
Make rs878853387(-;AACTC)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position1662014
GenePRPF8
is asnp
is mentioned by
dbSNPrs878853387
ebirs878853387
HLIrs878853387
Exacrs878853387
Varsomers878853387
Maprs878853387
PheGenIrs878853387
hapmaprs878853387
1000 genomesrs878853387
hgdprs878853387
ensemblrs878853387
gopubmedrs878853387
geneviewrs878853387
scholarrs878853387
googlers878853387
pharmgkbrs878853387
gwascentralrs878853387
openSNPrs878853387
23andMers878853387
23andMe allrs878853387
SNP Nexus

SNPshotrs878853387
SNPdbers878853387
MSV3drs878853387
GWAS Ctlgrs878853387
Max Magnitude0
ClinVar
Risk rs878853387(;)
Alt rs878853387(;)
Reference rs878853387(AACTC;AACTC)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene PRPF8
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000017.10:g.1565308_1565312delGAGTT
CLNSRC
CLNACC RCV000225622.1,