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rs662702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs662702(C;T)
Make rs662702(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position31787522
GenePAX6
is asnp
is mentioned by
dbSNPrs662702
dbSNP (old)rs662702
ClinGenrs662702
ebirs662702
HLIrs662702
Exacrs662702
Gnomadrs662702
Varsomers662702
Maprs662702
PheGenIrs662702
Biobankrs662702
1000 genomesrs662702
hgdprs662702
ensemblrs662702
gopubmedrs662702
geneviewrs662702
scholarrs662702
googlers662702
pharmgkbrs662702
gwascentralrs662702
openSNPrs662702
23andMers662702
23andMe allrs662702
SNP Nexus

SNPshotrs662702
SNPdbers662702
MSV3drs662702
GWAS Ctlgrs662702
GMAF0.1511
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 21421876] A functional polymorphism at 3' UTR of the PAX6 gene may confer risk for extreme myopia in Chinese


[PMID 22447870] MicroRNA-328 may influence myopia development by mediating the PAX6 gene


[PMID 15307048OA-icon.png] A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins.


[PMID 20360993OA-icon.png] Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.


[PMID 27386500OA-icon.png] A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.


ClinVar
Risk rs662702(T;T)
Alt rs662702(T;T)
Reference Rs662702(C;C)
Significance Non-pathogenic
Disease Foveal hypoplasia and presenile cataract syndrome Wilms tumor Anophthalmia Keratitis Aniridia Peters anomaly
Variation info
Gene PAX6
CLNDBN Foveal hypoplasia and presenile cataract syndrome Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Anophthalmia Keratitis, hereditary Aniridia Aniridia, Cerebellar Ataxia, And Intellectual Disability Peters anomaly
Reversed 0
HGVS NC_000011.9:g.31809070C>T
CLNSRC
CLNACC RCV000262036.1, RCV000295981.1, RCV000317253.1, RCV000320954.1, RCV000332508.1, RCV000357038.1, RCV000371951.1,