rs104893862

Orientation

minus

Stabilized

minus

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

Make rs104893862(A;A)

Make rs104893862(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

110621231

Gene

PITX2

is a	snp
is	mentioned by
dbSNP	rs104893862
dbSNP (classic)	rs104893862
ClinGen	rs104893862
ebi	rs104893862
HLI	rs104893862
Exac	rs104893862
Gnomad	rs104893862
Varsome	rs104893862
LitVar	rs104893862
Map	rs104893862
PheGenI	rs104893862
Biobank	rs104893862
1000 genomes	rs104893862
hgdp	rs104893862
ensembl	rs104893862
geneview	rs104893862
scholar	rs104893862
google	rs104893862
pharmgkb	rs104893862
gwascentral	rs104893862
openSNP	rs104893862
23andMe	rs104893862
SNPshot	rs104893862
SNPdbe	rs104893862
MSV3d	rs104893862
GWAS Ctlg	rs104893862

Max Magnitude

0

OMIM	601542
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104893862(A;A)
Alt	rs104893862(A;A)
Reference	Rs104893862(G;G)
Significance	Pathogenic
Disease	Ring dermoid of cornea
Variation	info
Gene	PITX2
CLNDBN	Ring dermoid of cornea
Reversed	1
HGVS	NC_000004.11:g.111542387C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008562.3,