KRT3, keratin 3, 3850

N. diseases: 16; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57872071
rs57872071 		1.000 0.080 12 52791216 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 1997 2005
dbSNP: rs60410063
rs60410063 		0.925 0.080 12 52791233 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs62642055
rs62642055 		1.000 0.080 12 52807687 missense variant C/T snv
CUI: C4011926
Disease: WHITE SPONGE NEVUS 1
WHITE SPONGE NEVUS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60410063
rs60410063 		0.925 0.080 12 52791233 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005