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rs587776591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776591(C;G)
Make rs587776591(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position54130024
GenePRPF31
is asnp
is mentioned by
dbSNPrs587776591
dbSNP (classic)rs587776591
ClinGenrs587776591
ebirs587776591
HLIrs587776591
Exacrs587776591
Gnomadrs587776591
Varsomers587776591
LitVarrs587776591
Maprs587776591
PheGenIrs587776591
Biobankrs587776591
1000 genomesrs587776591
hgdprs587776591
ensemblrs587776591
geneviewrs587776591
scholarrs587776591
googlers587776591
pharmgkbrs587776591
gwascentralrs587776591
openSNPrs587776591
23andMers587776591
SNPshotrs587776591
SNPdbers587776591
MSV3drs587776591
GWAS Ctlgrs587776591
Max Magnitude0
ClinVar
Risk rs587776591(G;G)
Alt rs587776591(G;G)
Reference Rs587776591(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 11
Variation info
Gene PRPF31
CLNDBN Retinitis pigmentosa 11
Reversed 0
HGVS NC_000019.9:g.54633399C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004614.4,