rs104893859

Orientation

minus

Stabilized

minus

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

Make rs104893859(C;C)

Make rs104893859(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110618669

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs104893859
dbSNP (classic)	rs104893859
ClinGen	rs104893859
ebi	rs104893859
HLI	rs104893859
Exac	rs104893859
Gnomad	rs104893859
Varsome	rs104893859
LitVar	rs104893859
Map	rs104893859
PheGenI	rs104893859
Biobank	rs104893859
1000 genomes	rs104893859
hgdp	rs104893859
ensembl	rs104893859
geneview	rs104893859
scholar	rs104893859
google	rs104893859
pharmgkb	rs104893859
gwascentral	rs104893859
openSNP	rs104893859
23andMe	rs104893859
SNPshot	rs104893859
SNPdbe	rs104893859
MSV3d	rs104893859
GWAS Ctlg	rs104893859

Max Magnitude

0

OMIM	601542
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893859(A;A) rs104893859(C;C)
Alt	rs104893859(A;A) rs104893859(C;C)
Reference	Rs104893859(G;G)
Significance	Pathogenic
Disease	Axenfeld-Rieger syndrome type 1 not specified
Variation	info
Gene	PITX2
CLNDBN	Axenfeld-Rieger syndrome type 1 not specified
Reversed	1
HGVS	NC_000004.11:g.111539825C>G; NC_000004.11:g.111539825C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008555.3, RCV000179024.1,