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rs80194531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;C) 4 Corneal dystrophy, fuchs endothelial, 6
Make rs80194531(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position31461211
GeneZEB1
is asnp
is mentioned by
dbSNPrs80194531
dbSNP (classic)rs80194531
ClinGenrs80194531
ebirs80194531
HLIrs80194531
Exacrs80194531
Gnomadrs80194531
Varsomers80194531
LitVarrs80194531
Maprs80194531
PheGenIrs80194531
Biobankrs80194531
1000 genomesrs80194531
hgdprs80194531
ensemblrs80194531
geneviewrs80194531
scholarrs80194531
googlers80194531
pharmgkbrs80194531
gwascentralrs80194531
openSNPrs80194531
23andMers80194531
SNPshotrs80194531
SNPdbers80194531
MSV3drs80194531
GWAS Ctlgrs80194531
GMAF0.0124
Max Magnitude4
OMIM189909
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80194531(C;C)
Alt rs80194531(C;C)
Reference Rs80194531(A;A)
Significance Pathogenic
Disease Corneal dystrophy
Variation info
Gene ZEB1
CLNDBN Corneal dystrophy, Fuchs endothelial, 6
Reversed 0
HGVS NC_000010.10:g.31750140A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013468.16,