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rs58410481

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs58410481(A;G)
Make rs58410481(G;G)
ReferenceGRCh37 37.1/132
Chromosome17
Position40866784
GeneKRT12, LOC105371777
is asnp
is mentioned by
dbSNPrs58410481
dbSNP (classic)rs58410481
ClinGenrs58410481
ebirs58410481
HLIrs58410481
Exacrs58410481
Gnomadrs58410481
Varsomers58410481
LitVarrs58410481
Maprs58410481
PheGenIrs58410481
Biobankrs58410481
1000 genomesrs58410481
hgdprs58410481
ensemblrs58410481
geneviewrs58410481
scholarrs58410481
googlers58410481
pharmgkbrs58410481
gwascentralrs58410481
openSNPrs58410481
23andMers58410481
SNPshotrs58410481
SNPdbers58410481
MSV3drs58410481
GWAS Ctlgrs58410481
Max Magnitude0
OMIM601687
Desc
Variant0003
Relatedalso


ClinVar
Risk rs58410481(G;G)
Alt rs58410481(G;G)
Reference Rs58410481(A;A)
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.39023036T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008385.4, RCV000056420.1,