{{Rsnum
|rsid=1805388
|Gene=LIG4
|Chromosome=13
|position=108211243
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.1538
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=LIG4
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 66.4 | 30.8 | 2.8
| HCB | 54.5 | 38.6 | 6.8
| JPT | 88.9 | 11.1 | 0.0
| YRI | 79.2 | 18.1 | 2.8
| ASW | 78.9 | 21.1 | 0.0
| CHB | 54.5 | 38.6 | 6.8
| CHD | 64.8 | 28.6 | 6.7
| GIH | 85.0 | 14.0 | 1.0
| LWK | 90.7 | 9.3 | 0.0
| MEX | 58.6 | 36.2 | 5.2
| MKK | 80.9 | 17.8 | 1.3
| TSI | 77.6 | 22.4 | 0.0
| HapMapRevision=28
}}{{omim
|desc=MULTIPLE MYELOMA, RESISTANCE TO
|id=601837
|rsnum=1805388
|variant=0006
}}

{{ neighbor
| rsid = 1805389
| distance = 18
}}

{{Venter SNP
|rsid=1805388
|allele=A
|frequency=0.167
|uid=1103649330813
|type=heterozygous_SNP
|hugo=LIG4
|ensembl gene=ENSG00000174405
|ensembl transcript=ENST00000310534
|sift=AFFECT FUNCTION
|disease=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 Auto
|PMID=19408343
|Title=Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study
}}

{{PMID Auto
|PMID=19604268
|Title=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
|OA=1
}}

{{PharmGKB
|RSID=rs1805388
|Name_s=
|Gene_s=LIG4, ABHD13
|Feature=
|Evidence=PubMed ID:18165945
|Annotation=This variant may be associated with risk of developing glioma.
|Drugs=
|Drug Classes=
|Diseases=Glioma
|Curation Level=Curated
|PharmGKB Accession ID=PA161615701
}}

{{PMID Auto
|PMID=21717429
|Title=Genetic variants of the nonhomologous end joining gene LIG4 and severe radiation pneumonitis in nonsmall cell lung cancer patients treated with definitive radiotherapy
|OA=1
}}

{{PMID Auto
|PMID=22466227
|Title=Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.
}}

{{ClinVar
|rsid=1805388
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=108863591
|CHROM=13
|GMAF=0.1534
|dbSNPBuildID=92
|SSR=0
|SAO=1
|VP=0x05016800000015051f110100
|GENEINFO=LIG4:3981
|GENE_NAME=LIG4
|GENE_ID=3981
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.108863591G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8462; 0.1538
|CLNACC=RCV000008116.2
|CLNDBN=Multiple myeloma, resistance to
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601837.0006
|COMMON=1
|Disease=Multiple myeloma
}}

{{PMID Auto
|PMID=16465622
|Title=Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
|OA=1
}}

{{PMID Auto
|PMID=16857995
|Title=Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
|OA=1
}}

{{PMID Auto
|PMID=18579371
|Title=Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
|OA=1
}}

{{PMID Auto
|PMID=18768505
|Title=Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
|OA=1
}}

{{PMID Auto
|PMID=18796628
|Title=Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.
|OA=1
}}

{{PMID Auto
|PMID=19276285
|Title=Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19536092
|Title=Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
|OA=1
}}

{{PMID Auto
|PMID=23075580
|Title=Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients
}}

{{GET Evidence
|gene=LIG4
|aa_change=Thr9Ile
|aa_change_short=T9I
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1805388
|overall_frequency_n=1382
|overall_frequency_d=10606
|overall_frequency=0.130304
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=1
|n_articles_annotated=1
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.966
|nblosum100=3
|autoscore=3
|webscore=N
}}

{{PMID Auto
|PMID=23936089
|Title=Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies
|OA=1
}}

{{PMID Auto
|PMID=23630330
|Title=Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}