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rs58162394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58162394(G;G)
Make rs58162394(G;T)
ReferenceGRCh37 37.1/132
Chromosome17
Position40863154
GeneKRT12, LOC105371777
is asnp
is mentioned by
dbSNPrs58162394
dbSNP (classic)rs58162394
ClinGenrs58162394
ebirs58162394
HLIrs58162394
Exacrs58162394
Gnomadrs58162394
Varsomers58162394
LitVarrs58162394
Maprs58162394
PheGenIrs58162394
Biobankrs58162394
1000 genomesrs58162394
hgdprs58162394
ensemblrs58162394
geneviewrs58162394
scholarrs58162394
googlers58162394
pharmgkbrs58162394
gwascentralrs58162394
openSNPrs58162394
23andMers58162394
SNPshotrs58162394
SNPdbers58162394
MSV3drs58162394
GWAS Ctlgrs58162394
Max Magnitude0
OMIM601687
Desc
Variant0005
Relatedalso


ClinVar
Risk rs58162394(G;G)
Alt rs58162394(G;G)
Reference Rs58162394(T;T)
Significance Pathogenic
Disease Meesman's corneal dystrophy not provided
Variation info
Gene KRT12
CLNDBN Meesman's corneal dystrophy not provided
Reversed 1
HGVS NC_000017.10:g.39019406A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008387.4, RCV000056412.1,