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rs74315435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 keratoconus
Make rs74315435(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position25077727
GeneVSX1
is asnp
is mentioned by
dbSNPrs74315435
ebirs74315435
HLIrs74315435
Exacrs74315435
Varsomers74315435
Maprs74315435
PheGenIrs74315435
hapmaprs74315435
1000 genomesrs74315435
hgdprs74315435
ensemblrs74315435
gopubmedrs74315435
geneviewrs74315435
scholarrs74315435
googlers74315435
pharmgkbrs74315435
gwascentralrs74315435
openSNPrs74315435
23andMers74315435
23andMe allrs74315435
SNP Nexus

SNPshotrs74315435
SNPdbers74315435
MSV3drs74315435
GWAS Ctlgrs74315435
GMAF0.001377
Max Magnitude4
OMIM605020
Desc
Variant0004
Relatedalso
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
CLNACC RCV000005562.2,