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rs868538598

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs868538598(C;T)
Make rs868538598(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
GenePRPF31
is asnp
is mentioned by
dbSNPrs868538598
ebirs868538598
HLIrs868538598
Exacrs868538598
Varsomers868538598
Maprs868538598
PheGenIrs868538598
hapmaprs868538598
1000 genomesrs868538598
hgdprs868538598
ensemblrs868538598
gopubmedrs868538598
geneviewrs868538598
scholarrs868538598
googlers868538598
pharmgkbrs868538598
gwascentralrs868538598
openSNPrs868538598
23andMers868538598
23andMe allrs868538598
SNP Nexus

SNPshotrs868538598
SNPdbers868538598
MSV3drs868538598
GWAS Ctlgrs868538598
Max Magnitude0
ClinVar
Risk rs868538598(T;T)
Alt rs868538598(T;T)
Reference rs868538598(C;C)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene PRPF31
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000019.9:g.54631562C>T
CLNSRC
CLNACC RCV000225648.1,