rs12480307

plus

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

Make rs12480307(C;C)

Make rs12480307(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

25078910

Gene

VSX1

is a	snp
is	mentioned by
dbSNP	rs12480307
dbSNP (classic)	rs12480307
ClinGen	rs12480307
ebi	rs12480307
HLI	rs12480307
Exac	rs12480307
Gnomad	rs12480307
Varsome	rs12480307
LitVar	rs12480307
Map	rs12480307
PheGenI	rs12480307
Biobank	rs12480307
1000 genomes	rs12480307
hgdp	rs12480307
ensembl	rs12480307
geneview	rs12480307
scholar	rs12480307
google	rs12480307
pharmgkb	rs12480307
gwascentral	rs12480307
openSNP	rs12480307
23andMe	rs12480307
SNPshot	rs12480307
SNPdbe	rs12480307
MSV3d	rs12480307
GWAS Ctlg	rs12480307

GMAF

0.2516

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

[PMID 24107477] Study of VSX1 Mutations in Patients with Keratoconus in Southwest Iran Using PCR-Single-Strand Conformation Polymorphism/Heteroduplex Analysis and Sequencing Method

[PMID 19956409 ] A novel VSX1 mutation identified in an individual with keratoconus in India.

[PMID 23289806] Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.

ClinVar
Risk	rs12480307(C;C)
Alt	rs12480307(C;C)
Reference	Rs12480307(T;T)
Significance	Non-pathogenic
Disease	not specified Posterior Polymorphous Corneal Dystrophy
Variation	info
Gene	VSX1
CLNDBN	not specified Posterior Polymorphous Corneal Dystrophy
Reversed	0
HGVS	NC_000020.10:g.25059546T>C
CLNSRC
CLNACC	RCV000242534.1, RCV000307716.1,