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rs587776571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776571(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position31793555
GenePAX6
is asnp
is mentioned by
dbSNPrs587776571
ebirs587776571
HLIrs587776571
Exacrs587776571
Varsomers587776571
Maprs587776571
PheGenIrs587776571
hapmaprs587776571
1000 genomesrs587776571
hgdprs587776571
ensemblrs587776571
gopubmedrs587776571
geneviewrs587776571
scholarrs587776571
googlers587776571
pharmgkbrs587776571
gwascentralrs587776571
openSNPrs587776571
23andMers587776571
23andMe allrs587776571
SNP Nexus

SNPshotrs587776571
SNPdbers587776571
MSV3drs587776571
GWAS Ctlgrs587776571
Max Magnitude0
ClinVar
Risk rs587776571(T;T)
Alt rs587776571(T;T)
Reference rs587776571(A;A)
Significance Pathogenic
Disease Keratitis
Variation info
Gene PAX6
CLNDBN Keratitis, autosomal dominant
Reversed 1
HGVS NC_000011.9:g.31815103T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003634.4,