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rs74315433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 4 keratoconus
(G;G) 0 common in clinvar


Make rs74315433(A;A)
ReferenceGRCh38 38.1/141
Chromosome20
Position25079460
GeneVSX1
is asnp
is mentioned by
dbSNPrs74315433
ebirs74315433
HLIrs74315433
Exacrs74315433
Varsomers74315433
Maprs74315433
PheGenIrs74315433
hapmaprs74315433
1000 genomesrs74315433
hgdprs74315433
ensemblrs74315433
gopubmedrs74315433
geneviewrs74315433
scholarrs74315433
googlers74315433
pharmgkbrs74315433
gwascentralrs74315433
openSNPrs74315433
23andMers74315433
23andMe allrs74315433
SNP Nexus

SNPshotrs74315433
SNPdbers74315433
MSV3drs74315433
GWAS Ctlgrs74315433
GMAF0.005051
Max Magnitude4
OMIM605020
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315433(A,T;A,T)
Alt rs74315433(A,T;A,T)
Reference rs74315433(G;G)
Significance Pathogenic
Disease Posterior polymorphous corneal dystrophy 1
Variation info
Gene VSX1
CLNDBN Posterior polymorphous corneal dystrophy 1
Reversed 1
HGVS NC_000020.10:g.25060096C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005560.5,