KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR The IC3D classification of the corneal dystrophies. 19337156 2008
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0000772
Disease:
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