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rs80358192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 4 Corneal dystrophy Fuchs endothelial 1
(T;T) 0 common in complete genomics


Make rs80358192(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position36098332
GeneCOL8A2
is asnp
is mentioned by
dbSNPrs80358192
ebirs80358192
HLIrs80358192
Exacrs80358192
Varsomers80358192
Maprs80358192
PheGenIrs80358192
hapmaprs80358192
1000 genomesrs80358192
hgdprs80358192
ensemblrs80358192
gopubmedrs80358192
geneviewrs80358192
scholarrs80358192
googlers80358192
pharmgkbrs80358192
gwascentralrs80358192
openSNPrs80358192
23andMers80358192
23andMe allrs80358192
SNP Nexus

SNPshotrs80358192
SNPdbers80358192
MSV3drs80358192
GWAS Ctlgrs80358192
Max Magnitude4
OMIM120252
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358192(C,G;C,G)
Alt rs80358192(C,G;C,G)
Reference rs80358192(T;T)
Significance Pathogenic
Disease Corneal dystrophy Corneal dystrophy
Variation info
Gene COL8A2
CLNDBN Corneal dystrophy, Fuchs endothelial 1 Corneal dystrophy, posterior polymorphous, 2
Reversed 1
HGVS NC_000001.10:g.36563933A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018687.28, RCV000018688.28,