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rs587777693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGT;CAGT) 0 common in clinvar
(CTG;CTG) 0 common in clinvar
Make rs587777693(-;-)
Make rs587777693(-;CTG)
ReferenceGRCh38 38.1/142
Chromosome12
Position89497242
GenePOC1B
is asnp
is mentioned by
dbSNPrs587777693
ebirs587777693
HLIrs587777693
Exacrs587777693
Varsomers587777693
Maprs587777693
PheGenIrs587777693
hapmaprs587777693
1000 genomesrs587777693
hgdprs587777693
ensemblrs587777693
gopubmedrs587777693
geneviewrs587777693
scholarrs587777693
googlers587777693
pharmgkbrs587777693
gwascentralrs587777693
openSNPrs587777693
23andMers587777693
23andMe allrs587777693
SNP Nexus

SNPshotrs587777693
SNPdbers587777693
MSV3drs587777693
GWAS Ctlgrs587777693
Max Magnitude0
ClinVar
Risk rs587777693(CTGT,T;CTGT,T)
Alt rs587777693(CTGT,T;CTGT,T)
Reference rs587777693(CAGT;CAGT)
Significance Pathogenic
Disease Cone-rod dystrophy 20
Variation info
Gene POC1B
CLNDBN Cone-rod dystrophy 20
Reversed 1
HGVS NC_000012.11:g.89891019_89891021delCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000143863.3,