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: rs886038212
rs886038212
1.000 0.080 17 40866792 missense variant A/G snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.730 1.000 17 1997 2016
dbSNP: rs57218384
rs57218384
0.925 0.080 17 40866783 missense variant C/A;G snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.730 1.000 16 1997 2014
dbSNP: rs267607386
rs267607386
1.000 0.080 17 40863141 missense variant A/C snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 14 1997 2014
dbSNP: rs58038639
rs58038639
0.925 0.080 17 40866778 missense variant C/G snv 4.0E-06
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 14 1997 2014
dbSNP: rs267607387
rs267607387
1.000 0.080 17 40866802 missense variant T/C snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs28936695
rs28936695
1.000 0.080 17 40866801 missense variant A/G snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs58162394
rs58162394
0.925 0.080 17 40863154 missense variant A/C snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs58343600
rs58343600
0.925 0.080 17 40866760 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs58864803
rs58864803
1.000 0.080 17 40866798 missense variant T/G snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs58918655
rs58918655
0.925 0.080 17 40866768 missense variant A/C snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs59202432
rs59202432
0.925 0.080 17 40863153 missense variant T/C snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs62635290
rs62635290
1.000 0.080 17 40863150 missense variant C/G snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 14 1997 2014
dbSNP: rs267607387
rs267607387
1.000 0.080 17 40866802 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 1997 2008
dbSNP: rs58410481
rs58410481
1.000 0.080 17 40866784 missense variant T/C snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs59350319
rs59350319
1.000 0.080 17 40863162 missense variant A/C snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61282718
rs61282718
1.000 0.080 17 40866782 missense variant T/G snv
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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