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rs1805389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs1805389(C;T)
Make rs1805389(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position108211261
GeneLIG4
is asnp
is mentioned by
dbSNPrs1805389
ebirs1805389
HLIrs1805389
Exacrs1805389
Varsomers1805389
Maprs1805389
PheGenIrs1805389
hapmaprs1805389
1000 genomesrs1805389
hgdprs1805389
ensemblrs1805389
gopubmedrs1805389
geneviewrs1805389
scholarrs1805389
googlers1805389
pharmgkbrs1805389
gwascentralrs1805389
openSNPrs1805389
23andMers1805389
23andMe allrs1805389
SNP Nexus

SNPshotrs1805389
SNPdbers1805389
MSV3drs1805389
GWAS Ctlgrs1805389
GMAF0.05693
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM601837
DescMULTIPLE MYELOMA, RESISTANCE TO
Variant0005
Relatedalso
Neighborrs1805388
Distance18


Venter snp
Source plos
Gene LIG4
allele A
frequency 0.017
sift AFFECT FUNCTION
HuRef 1103649330814
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.



ClinVar
Risk rs1805389(T;T)
Alt rs1805389(T;T)
Reference rs1805389(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.108863609G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008115.3, RCV000126630.1,



[PMID 18704161OA-icon.png] Genetic variation in an individual human exome.


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


GET Evidence
LIG4-A3V
aa_change Ala3Val
aa_change_short A3V
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.035843
summary One report has associated this with a decreased risk of multiple myeloma.