rs104893857

Orientation

minus

Stabilized

minus

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

Make rs104893857(A;A)

Make rs104893857(A;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110621255

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs104893857
dbSNP (classic)	rs104893857
ClinGen	rs104893857
ebi	rs104893857
HLI	rs104893857
Exac	rs104893857
Gnomad	rs104893857
Varsome	rs104893857
LitVar	rs104893857
Map	rs104893857
PheGenI	rs104893857
Biobank	rs104893857
1000 genomes	rs104893857
hgdp	rs104893857
ensembl	rs104893857
geneview	rs104893857
scholar	rs104893857
google	rs104893857
pharmgkb	rs104893857
gwascentral	rs104893857
openSNP	rs104893857
23andMe	rs104893857
SNPshot	rs104893857
SNPdbe	rs104893857
MSV3d	rs104893857
GWAS Ctlg	rs104893857

Max Magnitude

0

OMIM	601542
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893857(A;A)
Alt	rs104893857(A;A)
Reference	Rs104893857(T;T)
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.111542411A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008551.3,