Rs1805388

From SNPedia

Venter snp
Source	plos
Gene	LIG4
allele	A
frequency	0.167
sift	AFFECT FUNCTION
HuRef	1103649330813
Disease Association	Defects in LIG4 are the cause of LIG4 syndrome (MIM:606593). This disease is characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.

[PMID 19408343] Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study

[PMID 19604268] Association between total immunoglobulin E and antibody responses to naturally acquired Ascaris lumbricoides infection and polymorphisms of immune system-related LIG4, TNFSF13B and IRS2 genes