rs28936409

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0
(G;G)	0	common in clinvar

Make rs28936409(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110621303

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs28936409
dbSNP (classic)	rs28936409
ClinGen	rs28936409
ebi	rs28936409
HLI	rs28936409
Exac	rs28936409
Gnomad	rs28936409
Varsome	rs28936409
LitVar	rs28936409
Map	rs28936409
PheGenI	rs28936409
Biobank	rs28936409
1000 genomes	rs28936409
hgdp	rs28936409
ensembl	rs28936409
geneview	rs28936409
scholar	rs28936409
google	rs28936409
pharmgkb	rs28936409
gwascentral	rs28936409
openSNP	rs28936409
23andMe	rs28936409
SNPshot	rs28936409
SNPdbe	rs28936409
MSV3d	rs28936409
GWAS Ctlg	rs28936409

Max Magnitude

0

OMIM	601542
Desc	RIEGER SYNDROME, TYPE 1
Variant	0005
Related	also

ClinVar
Risk	Rs28936409(C;C)
Alt	Rs28936409(C;C)
Reference	Rs28936409(G;G)
Significance	Untested
Disease	Axenfeld-Rieger syndrome type 1
Variation	info
Gene	PITX2
CLNDBN	Axenfeld-Rieger syndrome type 1
Reversed	1
HGVS	NC_000004.11:g.111542459C>G
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000028763.1, SCV000028763.1,