Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776572(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position31806397
GenePAX6
is asnp
is mentioned by
dbSNPrs587776572
ebirs587776572
HLIrs587776572
Exacrs587776572
Varsomers587776572
Maprs587776572
PheGenIrs587776572
hapmaprs587776572
1000 genomesrs587776572
hgdprs587776572
ensemblrs587776572
gopubmedrs587776572
geneviewrs587776572
scholarrs587776572
googlers587776572
pharmgkbrs587776572
gwascentralrs587776572
openSNPrs587776572
23andMers587776572
23andMe allrs587776572
SNP Nexus

SNPshotrs587776572
SNPdbers587776572
MSV3drs587776572
GWAS Ctlgrs587776572
Max Magnitude0
ClinVar
Risk rs587776572(C;C)
Alt rs587776572(C;C)
Reference rs587776572(G;G)
Significance Pathogenic
Disease Foveal hypoplasia and presenile cataract syndrome
Variation info
Gene PAX6
CLNDBN Foveal hypoplasia and presenile cataract syndrome
Reversed 1
HGVS NC_000011.9:g.31827945C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003648.4,