Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62651994
rs62651994
KRT10 ; TMEM99
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.700 GeneticVariation UNIPROT A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845

1998
dbSNP: rs62651994
rs62651994
KRT10 ; TMEM99
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.700 GeneticVariation UNIPROT A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939

1997