rs1805389
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 |
| Make rs1805389(C;T) |
| Make rs1805389(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 108211261 |
| Gene | LIG4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805389 |
| dbSNP (classic) | rs1805389 |
| ClinGen | rs1805389 |
| ebi | rs1805389 |
| HLI | rs1805389 |
| Exac | rs1805389 |
| Gnomad | rs1805389 |
| Varsome | rs1805389 |
| LitVar | rs1805389 |
| Map | rs1805389 |
| PheGenI | rs1805389 |
| Biobank | rs1805389 |
| 1000 genomes | rs1805389 |
| hgdp | rs1805389 |
| ensembl | rs1805389 |
| geneview | rs1805389 |
| scholar | rs1805389 |
| rs1805389 | |
| pharmgkb | rs1805389 |
| gwascentral | rs1805389 |
| openSNP | rs1805389 |
| 23andMe | rs1805389 |
| SNPshot | rs1805389 |
| SNPdbe | rs1805389 |
| MSV3d | rs1805389 |
| GWAS Ctlg | rs1805389 |
| GMAF | 0.05693 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1805389(A;A) rs1805389(T;T) |
| Alt | rs1805389(A;A) rs1805389(T;T) |
| Reference | Rs1805389(C;C) |
| Significance | Other |
| Disease | Multiple myeloma not specified Severe combined immunodeficiency with sensitivity to ionizing radiation Lig4 syndrome |
| Variation | info |
| Gene | LIG4 |
| CLNDBN | Multiple myeloma, resistance to not specified Severe combined immunodeficiency with sensitivity to ionizing radiation Lig4 syndrome |
| Reversed | 1 |
| HGVS | NC_000013.10:g.108863609G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008115.3, RCV000126630.1, RCV000284646.1, RCV000400690.1, |
[PMID 18704161
] Genetic variation in an individual human exome.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
