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rs869312187

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312187(C;T)
Make rs869312187(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
GenePRPF31
is asnp
is mentioned by
dbSNPrs869312187
ebirs869312187
HLIrs869312187
Exacrs869312187
Varsomers869312187
Maprs869312187
PheGenIrs869312187
hapmaprs869312187
1000 genomesrs869312187
hgdprs869312187
ensemblrs869312187
gopubmedrs869312187
geneviewrs869312187
scholarrs869312187
googlers869312187
pharmgkbrs869312187
gwascentralrs869312187
openSNPrs869312187
23andMers869312187
23andMe allrs869312187
SNP Nexus

SNPshotrs869312187
SNPdbers869312187
MSV3drs869312187
GWAS Ctlgrs869312187
Max Magnitude0
ClinVar
Risk rs869312187(T;T)
Alt rs869312187(T;T)
Reference rs869312187(C;C)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene PRPF31
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000019.9:g.54631726C>T
CLNSRC
CLNACC RCV000210312.1,