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rs587777694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777694(A;A)
Make rs587777694(A;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position89470360
GenePOC1B
is asnp
is mentioned by
dbSNPrs587777694
ebirs587777694
HLIrs587777694
Exacrs587777694
Varsomers587777694
Maprs587777694
PheGenIrs587777694
hapmaprs587777694
1000 genomesrs587777694
hgdprs587777694
ensemblrs587777694
gopubmedrs587777694
geneviewrs587777694
scholarrs587777694
googlers587777694
pharmgkbrs587777694
gwascentralrs587777694
openSNPrs587777694
23andMers587777694
23andMe allrs587777694
SNP Nexus

SNPshotrs587777694
SNPdbers587777694
MSV3drs587777694
GWAS Ctlgrs587777694
Max Magnitude0
ClinVar
Risk rs587777694(A;A)
Alt rs587777694(A;A)
Reference rs587777694(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy 20
Variation info
Gene POC1B
CLNDBN Cone-rod dystrophy 20
Reversed 0
HGVS NC_000012.11:g.89864137C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000143864.3,