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rs58343600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58343600(C;C)
Make rs58343600(C;G)
ReferenceGRCh37 37.1/132
Chromosome17
Position39023012
GeneKRT12
is asnp
is mentioned by
dbSNPrs58343600
ebirs58343600
HLIrs58343600
Exacrs58343600
Varsomers58343600
Maprs58343600
PheGenIrs58343600
hapmaprs58343600
1000 genomesrs58343600
hgdprs58343600
ensemblrs58343600
gopubmedrs58343600
geneviewrs58343600
scholarrs58343600
googlers58343600
pharmgkbrs58343600
gwascentralrs58343600
openSNPrs58343600
23andMers58343600
23andMe allrs58343600
SNP Nexus

SNPshotrs58343600
SNPdbers58343600
MSV3drs58343600
GWAS Ctlgrs58343600
Max Magnitude0
OMIM601687
Desc
Variant0002
Relatedalso


ClinVar
Risk rs58343600(C,T;C,T)
Alt rs58343600(C,T;C,T)
Reference rs58343600(G;G)
Significance Pathogenic
Disease not provided Meesman's corneal dystrophy
Variation info
Gene KRT12
CLNDBN not provided Meesman's corneal dystrophy
Reversed 1
HGVS NC_000017.10:g.39023012C>A; NC_000017.10:g.39023012C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000056427.1, RCV000008384.3, RCV000056426.1,