rs3026398

Orientation

minus

Stabilized

minus

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

Make rs3026398(C;T)

Make rs3026398(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31787227

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs3026398
dbSNP (classic)	rs3026398
ClinGen	rs3026398
ebi	rs3026398
HLI	rs3026398
Exac	rs3026398
Gnomad	rs3026398
Varsome	rs3026398
LitVar	rs3026398
Map	rs3026398
PheGenI	rs3026398
Biobank	rs3026398
1000 genomes	rs3026398
hgdp	rs3026398
ensembl	rs3026398
geneview	rs3026398
scholar	rs3026398
google	rs3026398
pharmgkb	rs3026398
gwascentral	rs3026398
openSNP	rs3026398
23andMe	rs3026398
SNPshot	rs3026398
SNPdbe	rs3026398
MSV3d	rs3026398
GWAS Ctlg	rs3026398

GMAF

0.1864

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 20360993] 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,