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rs3026398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3026398(C;T)
Make rs3026398(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31787227
GenePAX6
is asnp
is mentioned by
dbSNPrs3026398
dbSNP (old)rs3026398
ClinGenrs3026398
ebirs3026398
HLIrs3026398
Exacrs3026398
Gnomadrs3026398
Varsomers3026398
Maprs3026398
PheGenIrs3026398
Biobankrs3026398
1000 genomesrs3026398
hgdprs3026398
ensemblrs3026398
gopubmedrs3026398
geneviewrs3026398
scholarrs3026398
googlers3026398
pharmgkbrs3026398
gwascentralrs3026398
openSNPrs3026398
23andMers3026398
23andMe allrs3026398
SNP Nexus

SNPshotrs3026398
SNPdbers3026398
MSV3drs3026398
GWAS Ctlgrs3026398
GMAF0.1864
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 20360993OA-icon.png] Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness


ClinVar
Risk rs3026398(T;T)
Alt rs3026398(T;T)
Reference Rs3026398(C;C)
Significance Non-pathogenic
Disease Keratitis Wilms tumor Peters anomaly Aniridia Foveal hypoplasia and presenile cataract syndrome Anophthalmia
Variation info
Gene PAX6
CLNDBN Keratitis, hereditary Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Peters anomaly Aniridia, Cerebellar Ataxia, And Intellectual Disability Foveal hypoplasia and presenile cataract syndrome Anophthalmia Aniridia
Reversed 1
HGVS NC_000011.9:g.31808775G>A
CLNSRC
CLNACC RCV000276213.1, RCV000306938.1, RCV000311393.1, RCV000314986.1, RCV000363855.1, RCV000368371.1, RCV000392121.1,