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rs74315436

From SNPedia

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


Make rs74315436(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position25082047
GeneVSX1
is asnp
is mentioned by
dbSNPrs74315436
dbSNP (classic)rs74315436
ClinGenrs74315436
ebirs74315436
HLIrs74315436
Exacrs74315436
Gnomadrs74315436
Varsomers74315436
LitVarrs74315436
Maprs74315436
PheGenIrs74315436
Biobankrs74315436
1000 genomesrs74315436
hgdprs74315436
ensemblrs74315436
geneviewrs74315436
scholarrs74315436
googlers74315436
pharmgkbrs74315436
gwascentralrs74315436
openSNPrs74315436
23andMers74315436
SNPshotrs74315436
SNPdbers74315436
MSV3drs74315436
GWAS Ctlgrs74315436
Max Magnitude4
OMIM605020
Desc
Variant0005
Relatedalso
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,