rs6533526

Orientation

plus

Stabilized

plus

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

Make rs6533526(A;A)

Make rs6533526(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

110617671

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs6533526
dbSNP (classic)	rs6533526
ClinGen	rs6533526
ebi	rs6533526
HLI	rs6533526
Exac	rs6533526
Gnomad	rs6533526
Varsome	rs6533526
LitVar	rs6533526
Map	rs6533526
PheGenI	rs6533526
Biobank	rs6533526
1000 genomes	rs6533526
hgdp	rs6533526
ensembl	rs6533526
geneview	rs6533526
scholar	rs6533526
google	rs6533526
pharmgkb	rs6533526
gwascentral	rs6533526
openSNP	rs6533526
23andMe	rs6533526
SNPshot	rs6533526
SNPdbe	rs6533526
MSV3d	rs6533526
GWAS Ctlg	rs6533526

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs6533526(A;A)
Alt	rs6533526(A;A)
Reference	Rs6533526(G;G)
Significance	Pathogenic
Disease	not provided Anterior segment mesenchymal dysgenesis Axenfeld-Rieger Syndrome PITX2-Related Eye Abnormalities Iridogoniodysgenesis Cataract Ring dermoid of cornea Peters anomaly
Variation	info
Gene	PITX2
CLNDBN	not provided Anterior segment mesenchymal dysgenesis Axenfeld-Rieger Syndrome PITX2-Related Eye Abnormalities Iridogoniodysgenesis, dominant type Cataract Ring dermoid of cornea Peters anomaly
Reversed	0
HGVS	NC_000004.11:g.111538827G>A
CLNSRC
CLNACC	RCV000162087.1, RCV000290152.1, RCV000293383.1, RCV000347493.1, RCV000350621.1, RCV000382147.1, RCV000385721.1, RCV000392643.1,