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rs267607431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607431(A;T)
Make rs267607431(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position52791248
GeneKRT3
is asnp
is mentioned by
dbSNPrs267607431
dbSNP (classic)rs267607431
ClinGenrs267607431
ebirs267607431
HLIrs267607431
Exacrs267607431
Gnomadrs267607431
Varsomers267607431
LitVarrs267607431
Maprs267607431
PheGenIrs267607431
Biobankrs267607431
1000 genomesrs267607431
hgdprs267607431
ensemblrs267607431
geneviewrs267607431
scholarrs267607431
googlers267607431
pharmgkbrs267607431
gwascentralrs267607431
openSNPrs267607431
23andMers267607431
SNPshotrs267607431
SNPdbers267607431
MSV3drs267607431
GWAS Ctlgrs267607431
Max Magnitude0
ClinVar
Risk rs267607431(T;T)
Alt rs267607431(T;T)
Reference Rs267607431(A;A)
Significance Pathogenic
Disease not provided Meesman's corneal dystrophy
Variation info
Gene KRT3
CLNDBN not provided Meesman's corneal dystrophy
Reversed 1
HGVS NC_000012.11:g.53185032T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000057202.1, RCV000118979.2,