Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57121345
rs57121345
KRT14
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation UNIPROT A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. 7526933

1993