rs121909249

Orientation

minus

Stabilized

minus

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

Make rs121909249(C;C)

Make rs121909249(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110621169

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs121909249
dbSNP (classic)	rs121909249
ClinGen	rs121909249
ebi	rs121909249
HLI	rs121909249
Exac	rs121909249
Gnomad	rs121909249
Varsome	rs121909249
LitVar	rs121909249
Map	rs121909249
PheGenI	rs121909249
Biobank	rs121909249
1000 genomes	rs121909249
hgdp	rs121909249
ensembl	rs121909249
geneview	rs121909249
scholar	rs121909249
google	rs121909249
pharmgkb	rs121909249
gwascentral	rs121909249
openSNP	rs121909249
23andMe	rs121909249
SNPshot	rs121909249
SNPdbe	rs121909249
MSV3d	rs121909249
GWAS Ctlg	rs121909249

Max Magnitude

0

OMIM	601542
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909249(C;C)
Alt	rs121909249(C;C)
Reference	Rs121909249(G;G)
Significance	Pathogenic
Disease	Axenfeld-Rieger syndrome type 1
Variation	info
Gene	PITX2
CLNDBN	Axenfeld-Rieger syndrome type 1
Reversed	1
HGVS	NC_000004.11:g.111542325C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008560.3,