rs1057519483

Orientation

minus

Stabilized

minus

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

Make rs1057519483(-;-)

Make rs1057519483(-;CGCTACCCGGACATGTCCACAC)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

110621211

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs1057519483
dbSNP (classic)	rs1057519483
ClinGen	rs1057519483
ebi	rs1057519483
HLI	rs1057519483
Exac	rs1057519483
Gnomad	rs1057519483
Varsome	rs1057519483
LitVar	rs1057519483
Map	rs1057519483
PheGenI	rs1057519483
Biobank	rs1057519483
1000 genomes	rs1057519483
hgdp	rs1057519483
ensembl	rs1057519483
geneview	rs1057519483
scholar	rs1057519483
google	rs1057519483
pharmgkb	rs1057519483
gwascentral	rs1057519483
openSNP	rs1057519483
23andMe	rs1057519483
SNPshot	rs1057519483
SNPdbe	rs1057519483
MSV3d	rs1057519483
GWAS Ctlg	rs1057519483

Max Magnitude

0

ClinVar
Risk	rs1057519483(-;-)
Alt	rs1057519483(-;-)
Reference	Rs1057519483(CGCTACCCGGACATGTCCACAC;CGCTACCCGGACATGTCCACAC)
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.111542367_111542388del22
CLNSRC
CLNACC	RCV000416516.1,