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rs587777599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777599(C;T)
Make rs587777599(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position113288183
GenePRPF4
is asnp
is mentioned by
dbSNPrs587777599
dbSNP (classic)rs587777599
ClinGenrs587777599
ebirs587777599
HLIrs587777599
Exacrs587777599
Gnomadrs587777599
Varsomers587777599
LitVarrs587777599
Maprs587777599
PheGenIrs587777599
Biobankrs587777599
1000 genomesrs587777599
hgdprs587777599
ensemblrs587777599
geneviewrs587777599
scholarrs587777599
googlers587777599
pharmgkbrs587777599
gwascentralrs587777599
openSNPrs587777599
23andMers587777599
SNPshotrs587777599
SNPdbers587777599
MSV3drs587777599
GWAS Ctlgrs587777599
Max Magnitude0
ClinVar
Risk rs587777599(T;T)
Alt rs587777599(T;T)
Reference Rs587777599(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 70
Variation info
Gene PRPF4
CLNDBN Retinitis pigmentosa 70
Reversed 0
HGVS NC_000009.11:g.116050463C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000132564.2,