rs1057519488

Orientation

minus

Stabilized

minus

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

Make rs1057519488(-;-)

Make rs1057519488(-;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

110618315

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs1057519488
dbSNP (classic)	rs1057519488
ClinGen	rs1057519488
ebi	rs1057519488
HLI	rs1057519488
Exac	rs1057519488
Gnomad	rs1057519488
Varsome	rs1057519488
LitVar	rs1057519488
Map	rs1057519488
PheGenI	rs1057519488
Biobank	rs1057519488
1000 genomes	rs1057519488
hgdp	rs1057519488
ensembl	rs1057519488
geneview	rs1057519488
scholar	rs1057519488
google	rs1057519488
pharmgkb	rs1057519488
gwascentral	rs1057519488
openSNP	rs1057519488
23andMe	rs1057519488
SNPshot	rs1057519488
SNPdbe	rs1057519488
MSV3d	rs1057519488
GWAS Ctlg	rs1057519488

Max Magnitude

0

ClinVar
Risk	rs1057519488(-;-)
Alt	rs1057519488(-;-)
Reference	Rs1057519488(TC;TC)
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.111539471_111539472delGA
CLNSRC
CLNACC	RCV000416496.1,