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rs587776589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCGGAAGCAGG;CCGGAAGCAGG) 0 common in clinvar
Make rs587776589(-;-)
Make rs587776589(-;GGAAGCAGGCC)
Make rs587776589(GGAAGCAGGCC;GGAAGCAGGCC)
ReferenceGRCh38 38.1/142
Chromosome19
Position54128346
GenePRPF31
is asnp
is mentioned by
dbSNPrs587776589
dbSNP (old)rs587776589
ClinGenrs587776589
ebirs587776589
HLIrs587776589
Exacrs587776589
Varsomers587776589
Maprs587776589
PheGenIrs587776589
Biobankrs587776589
1000 genomesrs587776589
hgdprs587776589
ensemblrs587776589
gopubmedrs587776589
geneviewrs587776589
scholarrs587776589
googlers587776589
pharmgkbrs587776589
gwascentralrs587776589
openSNPrs587776589
23andMers587776589
23andMe allrs587776589
SNP Nexus

SNPshotrs587776589
SNPdbers587776589
MSV3drs587776589
GWAS Ctlgrs587776589
Max Magnitude0
ClinVar
Risk rs587776589(-;-)
Alt rs587776589(-;-)
Reference Rs587776589(CCGGAAGCAGG;CCGGAAGCAGG)
Significance Pathogenic
Disease Retinitis pigmentosa 11
Variation info
Gene PRPF31
CLNDBN Retinitis pigmentosa 11
Reversed 0
HGVS NC_000019.9:g.54631721_54631731delGGAAGCAGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004606.4,