rs28936408

Orientation

minus

Stabilized

minus

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

Make rs28936408(A;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110622300

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs28936408
dbSNP (classic)	rs28936408
ClinGen	rs28936408
ebi	rs28936408
HLI	rs28936408
Exac	rs28936408
Gnomad	rs28936408
Varsome	rs28936408
LitVar	rs28936408
Map	rs28936408
PheGenI	rs28936408
Biobank	rs28936408
1000 genomes	rs28936408
hgdp	rs28936408
ensembl	rs28936408
geneview	rs28936408
scholar	rs28936408
google	rs28936408
pharmgkb	rs28936408
gwascentral	rs28936408
openSNP	rs28936408
23andMe	rs28936408
SNPshot	rs28936408
SNPdbe	rs28936408
MSV3d	rs28936408
GWAS Ctlg	rs28936408

Max Magnitude

0

OMIM	601542
Desc	RIEGER SYNDROME, TYPE 1
Variant	0001
Related	also

ClinVar
Risk	Rs28936408(A;A)
Alt	Rs28936408(A;A)
Reference	Rs28936408(T;T)
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.111543456A>T
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000028759.1, SCV000028759.1,