Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57837128
rs57837128
KRT1
0.010 GeneticVariation BEFREE Genetic analysis revealed a c.1436T>C transition mutation in the keratin 1 gene, and histopathology showed epidermolysis and hyperkeratosis, confirming the diagnosis of AEI. 30152556

2018