Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777335
rs587777335
Entrez Id: 3932
Gene Symbol: LCK
LCK
CUI: C1274233
Disease:
T-lymphocyte immunodeficiency
0.010 GeneticVariation BEFREE We identify and describe a child with a T-cell immunodeficiency caused by a homozygous missense mutation of the LCK gene (c.1022T>C) resulting from uniparental disomy. 22985903 2012