rs74315435

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	4	keratoconus

Make rs74315435(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

25077727

Gene

VSX1

is a	snp
is	mentioned by
dbSNP	rs74315435
dbSNP (classic)	rs74315435
ClinGen	rs74315435
ebi	rs74315435
HLI	rs74315435
Exac	rs74315435
Gnomad	rs74315435
Varsome	rs74315435
LitVar	rs74315435
Map	rs74315435
PheGenI	rs74315435
Biobank	rs74315435
1000 genomes	rs74315435
hgdp	rs74315435
ensembl	rs74315435
geneview	rs74315435
scholar	rs74315435
google	rs74315435
pharmgkb	rs74315435
gwascentral	rs74315435
openSNP	rs74315435
23andMe	rs74315435
SNPshot	rs74315435
SNPdbe	rs74315435
MSV3d	rs74315435
GWAS Ctlg	rs74315435

GMAF

0.001377

Max Magnitude

4

OMIM	605020
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315435(T;T)
Alt	rs74315435(T;T)
Reference	Rs74315435(G;G)
Significance	Pathogenic
Disease	Craniofacial anomalies and anterior segment dysgenesis syndrome
Variation	info
Gene	VSX1
CLNDBN	Craniofacial anomalies and anterior segment dysgenesis syndrome
Reversed	1
HGVS	NC_000020.10:g.25058363C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005562.3,