rs121909248

Orientation

minus

Stabilized

minus

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

Make rs121909248(C;T)

Make rs121909248(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110621166

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs121909248
dbSNP (classic)	rs121909248
ClinGen	rs121909248
ebi	rs121909248
HLI	rs121909248
Exac	rs121909248
Gnomad	rs121909248
Varsome	rs121909248
LitVar	rs121909248
Map	rs121909248
PheGenI	rs121909248
Biobank	rs121909248
1000 genomes	rs121909248
hgdp	rs121909248
ensembl	rs121909248
geneview	rs121909248
scholar	rs121909248
google	rs121909248
pharmgkb	rs121909248
gwascentral	rs121909248
openSNP	rs121909248
23andMe	rs121909248
SNPshot	rs121909248
SNPdbe	rs121909248
MSV3d	rs121909248
GWAS Ctlg	rs121909248

Max Magnitude

0

OMIM	601542
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909248(T;T)
Alt	rs121909248(T;T)
Reference	Rs121909248(C;C)
Significance	Pathogenic
Disease	Iridogoniodysgenesis
Variation	info
Gene	PITX2
CLNDBN	Iridogoniodysgenesis, dominant type
Reversed	1
HGVS	NC_000004.11:g.111542322G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008557.4,