rs662702

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs662702(C;T)

Make rs662702(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31787522

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs662702
dbSNP (classic)	rs662702
ClinGen	rs662702
ebi	rs662702
HLI	rs662702
Exac	rs662702
Gnomad	rs662702
Varsome	rs662702
LitVar	rs662702
Map	rs662702
PheGenI	rs662702
Biobank	rs662702
1000 genomes	rs662702
hgdp	rs662702
ensembl	rs662702
geneview	rs662702
scholar	rs662702
google	rs662702
pharmgkb	rs662702
gwascentral	rs662702
openSNP	rs662702
23andMe	rs662702
SNPshot	rs662702
SNPdbe	rs662702
MSV3d	rs662702
GWAS Ctlg	rs662702

GMAF

0.1511

Max Magnitude

0

?

(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 15307048 ] 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 20360993 ] Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.

[PMID 27386500 ] 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,