Gene: KRT2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852628
rs137852628
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 15949009

2005
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 15949009

2005
dbSNP: rs137852630
rs137852630
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 15949009

2005
dbSNP: rs137852631
rs137852631
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 15949009

2005
dbSNP: rs137852632
rs137852632
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 15949009

2005
dbSNP: rs57510142
rs57510142
KRT2
0.800 GeneticVariation UNIPROT Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. 15949009

2005
dbSNP: rs137852628
rs137852628
KRT2
0.800 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs137852630
rs137852630
KRT2
0.800 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs137852631
rs137852631
KRT2
0.800 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs137852632
rs137852632
KRT2
0.800 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs57510142
rs57510142
KRT2
0.800 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs137852628
rs137852628
KRT2
0.800 GeneticVariation UNIPROT Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. 10688369

2000
dbSNP: rs137852628
rs137852628
KRT2
0.800 GeneticVariation UNIPROT A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. 11167982

2000
dbSNP: rs137852628
rs137852628
KRT2
0.800 GeneticVariation UNIPROT A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 10620137

2000
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. 11167982

2000
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. 10688369

2000
dbSNP: rs137852629
rs137852629
KRT2
0.800 GeneticVariation UNIPROT A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 10620137

2000
dbSNP: rs137852630
rs137852630
KRT2
0.800 GeneticVariation UNIPROT A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. 11167982

2000
dbSNP: rs137852630
rs137852630
KRT2
0.800 GeneticVariation UNIPROT A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 10620137

2000
dbSNP: rs137852630
rs137852630
KRT2
0.800 GeneticVariation UNIPROT Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. 10688369

2000
dbSNP: rs137852631
rs137852631
KRT2
0.800 GeneticVariation UNIPROT Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. 10688369

2000
dbSNP: rs137852631
rs137852631
KRT2
0.800 GeneticVariation UNIPROT A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 10620137

2000
dbSNP: rs137852631
rs137852631
KRT2
0.800 GeneticVariation UNIPROT A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. 11167982

2000
dbSNP: rs137852632
rs137852632
KRT2
0.800 GeneticVariation UNIPROT A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. 10620137

2000