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rs58918655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58918655(G;G)
Make rs58918655(G;T)
ReferenceGRCh37 37.1/132
Chromosome17
Position40866768
GeneKRT12, LOC105371777
is asnp
is mentioned by
dbSNPrs58918655
dbSNP (classic)rs58918655
ClinGenrs58918655
ebirs58918655
HLIrs58918655
Exacrs58918655
Gnomadrs58918655
Varsomers58918655
LitVarrs58918655
Maprs58918655
PheGenIrs58918655
Biobankrs58918655
1000 genomesrs58918655
hgdprs58918655
ensemblrs58918655
geneviewrs58918655
scholarrs58918655
googlers58918655
pharmgkbrs58918655
gwascentralrs58918655
openSNPrs58918655
23andMers58918655
SNPshotrs58918655
SNPdbers58918655
MSV3drs58918655
GWAS Ctlgrs58918655
Max Magnitude0
OMIM601687
Desc
Variant0006
Relatedalso


ClinVar
Risk rs58918655(G;G)
Alt rs58918655(G;G)
Reference Rs58918655(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.39023020A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008388.5, RCV000056425.1,