KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
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: rs57218384
rs57218384
0.925 0.080 17 40866783 missense variant C/A;G snv
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 1997 1997
dbSNP: rs58038639
rs58038639
0.925 0.080 17 40866778 missense variant C/G snv 4.0E-06
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 2003 2003
dbSNP: rs58162394
rs58162394
0.925 0.080 17 40863154 missense variant A/C snv
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 1997 1997
dbSNP: rs58343600
rs58343600
0.925 0.080 17 40866760 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
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 1997 1997
dbSNP: rs58918655
rs58918655
0.925 0.080 17 40866768 missense variant A/C snv
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 1997 1997
dbSNP: rs59202432
rs59202432
0.925 0.080 17 40863153 missense variant T/C snv
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