rs12421026

Orientation

plus

Stabilized

plus

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

Make rs12421026(C;T)

Make rs12421026(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

31787774

Gene

PAX6

is a	snp
is	mentioned by
dbSNP	rs12421026
dbSNP (classic)	rs12421026
ClinGen	rs12421026
ebi	rs12421026
HLI	rs12421026
Exac	rs12421026
Gnomad	rs12421026
Varsome	rs12421026
LitVar	rs12421026
Map	rs12421026
PheGenI	rs12421026
Biobank	rs12421026
1000 genomes	rs12421026
hgdp	rs12421026
ensembl	rs12421026
geneview	rs12421026
scholar	rs12421026
google	rs12421026
pharmgkb	rs12421026
gwascentral	rs12421026
openSNP	rs12421026
23andMe	rs12421026
SNPshot	rs12421026
SNPdbe	rs12421026
MSV3d	rs12421026
GWAS Ctlg	rs12421026

GMAF

0.4444

Max Magnitude

0

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

[PMID 21589860] PAX6 haplotypes are associated with high myopia in Han chinese

ClinVar
Risk	rs12421026(G;G) rs12421026(T;T)
Alt	rs12421026(G;G) rs12421026(T;T)
Reference	Rs12421026(C;C)
Significance	Non-pathogenic
Disease	Aniridia Peters anomaly Anophthalmia Wilms tumor Foveal hypoplasia and presenile cataract syndrome Keratitis
Variation	info
Gene	PAX6
CLNDBN	Aniridia, Cerebellar Ataxia, And Intellectual Disability Peters anomaly Anophthalmia Aniridia Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Foveal hypoplasia and presenile cataract syndrome Keratitis, hereditary
Reversed	0
HGVS	NC_000011.9:g.31809322C>T
CLNSRC
CLNACC	RCV000267117.1, RCV000270682.1, RCV000282254.1, RCV000322069.1, RCV000325742.1, RCV000376648.1, RCV000380270.1,