rs74315436

Orientation

minus

Stabilized

minus

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

Make rs74315436(C;C)

Reference

GRCh38 38.1/141

Chromosome

20

Position

25082047

Gene

VSX1

is a	snp
is	mentioned by
dbSNP	rs74315436
dbSNP (classic)	rs74315436
ClinGen	rs74315436
ebi	rs74315436
HLI	rs74315436
Exac	rs74315436
Gnomad	rs74315436
Varsome	rs74315436
LitVar	rs74315436
Map	rs74315436
PheGenI	rs74315436
Biobank	rs74315436
1000 genomes	rs74315436
hgdp	rs74315436
ensembl	rs74315436
geneview	rs74315436
scholar	rs74315436
google	rs74315436
pharmgkb	rs74315436
gwascentral	rs74315436
openSNP	rs74315436
23andMe	rs74315436
SNPshot	rs74315436
SNPdbe	rs74315436
MSV3d	rs74315436
GWAS Ctlg	rs74315436

Max Magnitude

4

OMIM	605020
Desc
Variant	0005
Related	also

ClinVar
Risk	rs74315436(C;C)
Alt	rs74315436(C;C)
Reference	Rs74315436(T;T)
Significance	Pathogenic
Disease	Keratoconus 1 Posterior Polymorphous Corneal Dystrophy
Variation	info
Gene	VSX1
CLNDBN	Keratoconus 1 Posterior Polymorphous Corneal Dystrophy
Reversed	1
HGVS	NC_000020.10:g.25062683A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005563.5, RCV000396085.1,