rs1057519484

Orientation

minus

Stabilized

minus

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

Make rs1057519484(C;T)

Make rs1057519484(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

110621225

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs1057519484
dbSNP (classic)	rs1057519484
ClinGen	rs1057519484
ebi	rs1057519484
HLI	rs1057519484
Exac	rs1057519484
Gnomad	rs1057519484
Varsome	rs1057519484
LitVar	rs1057519484
Map	rs1057519484
PheGenI	rs1057519484
Biobank	rs1057519484
1000 genomes	rs1057519484
hgdp	rs1057519484
ensembl	rs1057519484
geneview	rs1057519484
scholar	rs1057519484
google	rs1057519484
pharmgkb	rs1057519484
gwascentral	rs1057519484
openSNP	rs1057519484
23andMe	rs1057519484
SNPshot	rs1057519484
SNPdbe	rs1057519484
MSV3d	rs1057519484
GWAS Ctlg	rs1057519484

Max Magnitude

0

ClinVar
Risk	rs1057519484(T;T)
Alt	rs1057519484(T;T)
Reference	Rs1057519484(C;C)
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.111542381G>A
CLNSRC
CLNACC	RCV000416527.1,