rs104893860

Orientation

minus

Stabilized

minus

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

Make rs104893860(A;A)

Make rs104893860(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110618542

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs104893860
dbSNP (classic)	rs104893860
ClinGen	rs104893860
ebi	rs104893860
HLI	rs104893860
Exac	rs104893860
Gnomad	rs104893860
Varsome	rs104893860
LitVar	rs104893860
Map	rs104893860
PheGenI	rs104893860
Biobank	rs104893860
1000 genomes	rs104893860
hgdp	rs104893860
ensembl	rs104893860
geneview	rs104893860
scholar	rs104893860
google	rs104893860
pharmgkb	rs104893860
gwascentral	rs104893860
openSNP	rs104893860
23andMe	rs104893860
SNPshot	rs104893860
SNPdbe	rs104893860
MSV3d	rs104893860
GWAS Ctlg	rs104893860

Max Magnitude

0

OMIM	601542
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893860(A;A)
Alt	rs104893860(A;A)
Reference	Rs104893860(G;G)
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.111539698C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008556.5,