Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607387
rs267607387
KRT12 ; LOC105371777
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR The IC3D classification of the corneal dystrophies. 19337156

2008
dbSNP: rs267607387
rs267607387
KRT12 ; LOC105371777
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908

1997