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rs587776590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776590(A;G)
Make rs587776590(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position54123563
GenePRPF31
is asnp
is mentioned by
dbSNPrs587776590
dbSNP (classic)rs587776590
ClinGenrs587776590
ebirs587776590
HLIrs587776590
Exacrs587776590
Gnomadrs587776590
Varsomers587776590
LitVarrs587776590
Maprs587776590
PheGenIrs587776590
Biobankrs587776590
1000 genomesrs587776590
hgdprs587776590
ensemblrs587776590
geneviewrs587776590
scholarrs587776590
googlers587776590
pharmgkbrs587776590
gwascentralrs587776590
openSNPrs587776590
23andMers587776590
SNPshotrs587776590
SNPdbers587776590
MSV3drs587776590
GWAS Ctlgrs587776590
Max Magnitude0
ClinVar
Risk rs587776590(G;G)
Alt rs587776590(G;G)
Reference Rs587776590(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 11
Variation info
Gene PRPF31 LOC101928780
CLNDBN Retinitis pigmentosa 11
Reversed 0
HGVS NC_000019.9:g.54626942A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004608.4,