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rs80358191

From SNPedia

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


Make rs80358191(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position36098318
GeneCOL8A2
is asnp
is mentioned by
dbSNPrs80358191
ebirs80358191
HLIrs80358191
Exacrs80358191
Varsomers80358191
Maprs80358191
PheGenIrs80358191
hapmaprs80358191
1000 genomesrs80358191
hgdprs80358191
ensemblrs80358191
gopubmedrs80358191
geneviewrs80358191
scholarrs80358191
googlers80358191
pharmgkbrs80358191
gwascentralrs80358191
openSNPrs80358191
23andMers80358191
23andMe allrs80358191
SNP Nexus

SNPshotrs80358191
SNPdbers80358191
MSV3drs80358191
GWAS Ctlgrs80358191
Max Magnitude4
OMIM120252
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358191(A;A)
Alt rs80358191(A;A)
Reference rs80358191(C;C)
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.36563919G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018685.28, RCV000018686.24,