rs1800124
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1800124(A;G) |
| Make rs1800124(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 13948220 |
| Gene | ERCC4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800124 |
| dbSNP (classic) | rs1800124 |
| ClinGen | rs1800124 |
| ebi | rs1800124 |
| HLI | rs1800124 |
| Exac | rs1800124 |
| Gnomad | rs1800124 |
| Varsome | rs1800124 |
| LitVar | rs1800124 |
| Map | rs1800124 |
| PheGenI | rs1800124 |
| Biobank | rs1800124 |
| 1000 genomes | rs1800124 |
| hgdp | rs1800124 |
| ensembl | rs1800124 |
| geneview | rs1800124 |
| scholar | rs1800124 |
| rs1800124 | |
| pharmgkb | rs1800124 |
| gwascentral | rs1800124 |
| openSNP | rs1800124 |
| 23andMe | rs1800124 |
| SNPshot | rs1800124 |
| SNPdbe | rs1800124 |
| MSV3d | rs1800124 |
| GWAS Ctlg | rs1800124 |
| GMAF | 0.008724 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24004570] Inter-individual variation in nucleotide excision repair pathway is modulated by non-synonymous polymorphisms in ERCC4 and MBD4 genes
[PMID 18767034
] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
| ClinVar | |
|---|---|
| Risk | rs1800124(G;G) |
| Alt | rs1800124(G;G) |
| Reference | Rs1800124(A;A) |
| Significance | Other |
| Disease | not specified Hereditary cancer-predisposing syndrome not provided Cockayne syndrome Fanconi anemia Xeroderma pigmentosum |
| Variation | info |
| Gene | ERCC4 |
| CLNDBN | not specified Hereditary cancer-predisposing syndrome not provided Cockayne syndrome Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F |
| Reversed | 0 |
| HGVS | NC_000016.9:g.14042077A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116989.4, RCV000210773.1, RCV000224428.1, RCV000228558.2, |
