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rs1805388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 reduced risk of multiple myeloma
(C;C) 0 common in clinvar
(C;T) 1.2 1.5x reduced risk of multiple myeloma
Make rs1805388(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position108211243
GeneLIG4
is asnp
is mentioned by
dbSNPrs1805388
ebirs1805388
HLIrs1805388
Exacrs1805388
Varsomers1805388
Maprs1805388
PheGenIrs1805388
hapmaprs1805388
1000 genomesrs1805388
hgdprs1805388
ensemblrs1805388
gopubmedrs1805388
geneviewrs1805388
scholarrs1805388
googlers1805388
pharmgkbrs1805388
gwascentralrs1805388
openSNPrs1805388
23andMers1805388
23andMe allrs1805388
SNP Nexus

SNPshotrs1805388
SNPdbers1805388
MSV3drs1805388
GWAS Ctlgrs1805388
GMAF0.1538
Max Magnitude2
? (C;C) (C;T) (T;T) 28
OMIM601837
DescMULTIPLE MYELOMA, RESISTANCE TO
Variant0006
Relatedalso
Neighborrs1805389
Distance18


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 19604268OA-icon.png] 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



[PMID 21717429OA-icon.png] Genetic variants of the nonhomologous end joining gene LIG4 and severe radiation pneumonitis in nonsmall cell lung cancer patients treated with definitive radiotherapy


[PMID 22466227] Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.


ClinVar
Risk rs1805388(T;T)
Alt rs1805388(T;T)
Reference rs1805388(C;C)
Significance Other
Disease Multiple myeloma not specified
Variation info
Gene LIG4
CLNDBN Multiple myeloma, resistance to not specified
Reversed 1
HGVS NC_000013.10:g.108863591G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008116.3, RCV000126631.1,



[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.


[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.


[PMID 18579371OA-icon.png] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.


[PMID 18768505OA-icon.png] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.


[PMID 18796628OA-icon.png] Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


[PMID 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.


[PMID 23075580] Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients


GET Evidence
LIG4-T9I
aa_change Thr9Ile
aa_change_short T9I
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.130304
summary



[PMID 23936089OA-icon.png] 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


[PMID 23630330] Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population.


[PMID 26974709] Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals.


[PMID 27508978] Genetic effects of XRCC4 and ligase IV genes on human glioma.