Source: ALL
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: C4014233
Disease:
IMMUNODEFICIENCY 22 		0.800 GeneticVariation UNIPROT Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. 22985903 2012
dbSNP: rs587777335
rs587777335
Entrez Id: 3932
Gene Symbol: LCK
LCK
CUI: C4014233
Disease:
IMMUNODEFICIENCY 22 		C 0.800 CausalMutation CLINVAR
dbSNP: rs10914542
rs10914542
Entrez Id: 3932
Gene Symbol: LCK
LCK
CUI: C3826457
Disease:
Diabetes in children 		0.010 GeneticVariation BEFREE LCK rs10914542-G allele associates with type 1 diabetes in children via T cell hyporesponsiveness. 31112992 2019
dbSNP: rs10914542
rs10914542
Entrez Id: 3932
Gene Symbol: LCK
LCK
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE This study reveals that the G allele of SNP rs10914542 of LCK impairs the TCR/CD3-mediated T-cell activation and increases the risk of T1D. 31112992 2019
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