rs1057519487

Orientation

minus

Stabilized

minus

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

Make rs1057519487(-;-)

Make rs1057519487(-;GACAGGCGTCCCGGGCTCCAGT)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

110618365

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs1057519487
dbSNP (classic)	rs1057519487
ClinGen	rs1057519487
ebi	rs1057519487
HLI	rs1057519487
Exac	rs1057519487
Gnomad	rs1057519487
Varsome	rs1057519487
LitVar	rs1057519487
Map	rs1057519487
PheGenI	rs1057519487
Biobank	rs1057519487
1000 genomes	rs1057519487
hgdp	rs1057519487
ensembl	rs1057519487
geneview	rs1057519487
scholar	rs1057519487
google	rs1057519487
pharmgkb	rs1057519487
gwascentral	rs1057519487
openSNP	rs1057519487
23andMe	rs1057519487
SNPshot	rs1057519487
SNPdbe	rs1057519487
MSV3d	rs1057519487
GWAS Ctlg	rs1057519487

Max Magnitude

0

ClinVar
Risk	rs1057519487(-;-)
Alt	rs1057519487(-;-)
Reference	Rs1057519487(GACAGGCGTCCCGGGCTCCAGT;GACAGGCGTCCCGGGCTCCAGT)
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.111539521_111539542del22
CLNSRC
CLNACC	RCV000416543.1,