Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309644
rs864309644
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.800 GeneticVariation UNIPROT By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which cosegregated with the phenotype in the family. 25168385

2015
dbSNP: rs864309644
rs864309644
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		T 0.800 CausalMutation CLINVAR