{{Rsnum
|rsid=1805389
|Gene=LIG4
|Chromosome=13
|position=108211261
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.05693
|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 | 96.8 | 3.2 | 0.0
| HCB | 89.5 | 10.5 | 0.0
| JPT | 93.2 | 6.8 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 89.5 | 10.5 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=MULTIPLE MYELOMA, RESISTANCE TO
|id=601837
|rsnum=1805389
|variant=0005
}}
{{ neighbor
| rsid = 1805388
| distance = 18
}}

{{Venter SNP
|rsid=1805389
|allele=A
|frequency=0.017
|uid=1103649330814
|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.
}}

{{ClinVar
|rsid=1805389
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=108863609
|CHROM=13
|GMAF=0.0568
|dbSNPBuildID=92
|SSR=0
|SAO=1
|VP=0x050168000000150517110101
|GENEINFO=LIG4:3981
|GENE_NAME=LIG4
|GENE_ID=3981
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.108863609G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9431; 0.05693
|CLNACC=RCV000008115.1
|CLNDBN=Multiple myeloma, resistance to
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601837.0005
|COMMON=1
|Disease=Multiple myeloma
}}

{{PMID Auto
|PMID=18704161
|Title=Genetic variation in an individual human exome.
|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
}}

{{GET Evidence
|gene=LIG4
|aa_change=Ala3Val
|aa_change_short=A3V
|impact=protective
|qualified_impact=Low clinical importance, Uncertain protective
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs1805389
|overall_frequency_n=378
|overall_frequency_d=10546
|overall_frequency=0.035843
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualityscore_treatability=2
|in_omim=Y
|pph2_score=0.004
|nblosum100=2
|autoscore=2
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=One report has associated this with a decreased risk of multiple myeloma.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}