rs104894175

Orientation

minus

Stabilized

minus

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

Make rs104894175(A;A)

Make rs104894175(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

102232043

Gene

PITX3

is a	snp
is	mentioned by
dbSNP	rs104894175
dbSNP (classic)	rs104894175
ClinGen	rs104894175
ebi	rs104894175
HLI	rs104894175
Exac	rs104894175
Gnomad	rs104894175
Varsome	rs104894175
LitVar	rs104894175
Map	rs104894175
PheGenI	rs104894175
Biobank	rs104894175
1000 genomes	rs104894175
hgdp	rs104894175
ensembl	rs104894175
geneview	rs104894175
scholar	rs104894175
google	rs104894175
pharmgkb	rs104894175
gwascentral	rs104894175
openSNP	rs104894175
23andMe	rs104894175
SNPshot	rs104894175
SNPdbe	rs104894175
MSV3d	rs104894175
GWAS Ctlg	rs104894175

Max Magnitude

0

OMIM	602669
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894175(A;A)
Alt	rs104894175(A;A)
Reference	Rs104894175(G;G)
Significance	Pathogenic
Disease	Cataract
Variation	info
Gene	PITX3
CLNDBN	Cataract, congenital
Reversed	1
HGVS	NC_000010.10:g.103991800C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007351.5,