rs1057519489

Orientation

minus

Stabilized

minus

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

Make rs1057519489(A;A)

Make rs1057519489(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

110618293

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs1057519489
dbSNP (classic)	rs1057519489
ClinGen	rs1057519489
ebi	rs1057519489
HLI	rs1057519489
Exac	rs1057519489
Gnomad	rs1057519489
Varsome	rs1057519489
LitVar	rs1057519489
Map	rs1057519489
PheGenI	rs1057519489
Biobank	rs1057519489
1000 genomes	rs1057519489
hgdp	rs1057519489
ensembl	rs1057519489
geneview	rs1057519489
scholar	rs1057519489
google	rs1057519489
pharmgkb	rs1057519489
gwascentral	rs1057519489
openSNP	rs1057519489
23andMe	rs1057519489
SNPshot	rs1057519489
SNPdbe	rs1057519489
MSV3d	rs1057519489
GWAS Ctlg	rs1057519489

Max Magnitude

0

ClinVar
Risk	rs1057519489(A;A)
Alt	rs1057519489(A;A)
Reference	Rs1057519489(T;T)
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.111539449A>T
CLNSRC
CLNACC	RCV000416518.1,