rs1799801
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1799801(C;C) |
| Make rs1799801(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 13948101 |
| Gene | ERCC4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799801 |
| dbSNP (classic) | rs1799801 |
| ClinGen | rs1799801 |
| ebi | rs1799801 |
| HLI | rs1799801 |
| Exac | rs1799801 |
| Gnomad | rs1799801 |
| Varsome | rs1799801 |
| LitVar | rs1799801 |
| Map | rs1799801 |
| PheGenI | rs1799801 |
| Biobank | rs1799801 |
| 1000 genomes | rs1799801 |
| hgdp | rs1799801 |
| ensembl | rs1799801 |
| geneview | rs1799801 |
| scholar | rs1799801 |
| rs1799801 | |
| pharmgkb | rs1799801 |
| gwascentral | rs1799801 |
| openSNP | rs1799801 |
| 23andMe | rs1799801 |
| SNPshot | rs1799801 |
| SNPdbe | rs1799801 |
| MSV3d | rs1799801 |
| GWAS Ctlg | rs1799801 |
| GMAF | 0.2264 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21622940
] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study
[PMID 22768293] Association between XPF Polymorphisms and Cancer Risk: A Meta-Analysis
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
[PMID 24353636] Effect of Xeroderma pigmentosum complementation group F polymorphisms and H.pylori infection on the risk of gastric cancer
| ClinVar | |
|---|---|
| Risk | rs1799801(C;C) |
| Alt | rs1799801(C;C) |
| Reference | Rs1799801(T;T) |
| Significance | Other |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | ERCC4 |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 0 |
| HGVS | NC_000016.9:g.14041958T>C |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000116988.3, RCV000265728.1, |
[PMID 30973677] Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum-based chemoradiotherapy treatment.
