rs387906810

Orientation

minus

Stabilized

minus

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

Make rs387906810(A;G)

Make rs387906810(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110618679

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs387906810
dbSNP (classic)	rs387906810
ClinGen	rs387906810
ebi	rs387906810
HLI	rs387906810
Exac	rs387906810
Gnomad	rs387906810
Varsome	rs387906810
LitVar	rs387906810
Map	rs387906810
PheGenI	rs387906810
Biobank	rs387906810
1000 genomes	rs387906810
hgdp	rs387906810
ensembl	rs387906810
geneview	rs387906810
scholar	rs387906810
google	rs387906810
pharmgkb	rs387906810
gwascentral	rs387906810
openSNP	rs387906810
23andMe	rs387906810
SNPshot	rs387906810
SNPdbe	rs387906810
MSV3d	rs387906810
GWAS Ctlg	rs387906810

Max Magnitude

0

ClinVar
Risk	rs387906810(G;G)
Alt	rs387906810(G;G)
Reference	Rs387906810(A;A)
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.111539835T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023116.3,