KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58410481
rs58410481
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT
dbSNP: rs59350319
rs59350319
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT
dbSNP: rs61282718
rs61282718
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT
dbSNP: rs57218384
rs57218384
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs57218384
rs57218384
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs886038212
rs886038212
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs886038212
rs886038212
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.730 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs267607386
rs267607386
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs58038639
rs58038639
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.710 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
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
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs267607387
rs267607387
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs28936695
rs28936695
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs58162394
rs58162394
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs58162394
rs58162394
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs58343600
rs58343600
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs58343600
rs58343600
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs58864803
rs58864803
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs58864803
rs58864803
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs58918655
rs58918655
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
dbSNP: rs58918655
rs58918655
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. 9399908 1997
dbSNP: rs59202432
rs59202432
Entrez Id: 3859;105371777
Gene Symbol: KRT12;LOC105371777
KRT12;LOC105371777
CUI: C0339277
Disease:
Corneal Dystrophy, Juvenile Epithelial of Meesmann
0.700 GeneticVariation UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997