rs104893858

Orientation

minus

Stabilized

minus

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

Make rs104893858(A;C)

Make rs104893858(C;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110621214

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs104893858
dbSNP (classic)	rs104893858
ClinGen	rs104893858
ebi	rs104893858
HLI	rs104893858
Exac	rs104893858
Gnomad	rs104893858
Varsome	rs104893858
LitVar	rs104893858
Map	rs104893858
PheGenI	rs104893858
Biobank	rs104893858
1000 genomes	rs104893858
hgdp	rs104893858
ensembl	rs104893858
geneview	rs104893858
scholar	rs104893858
google	rs104893858
pharmgkb	rs104893858
gwascentral	rs104893858
openSNP	rs104893858
23andMe	rs104893858
SNPshot	rs104893858
SNPdbe	rs104893858
MSV3d	rs104893858
GWAS Ctlg	rs104893858

Max Magnitude

0

OMIM	601542
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893858(C;C)
Alt	rs104893858(C;C)
Reference	Rs104893858(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.111542370T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008553.3,