rs1800975
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1800975(A;G) |
| Make rs1800975(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 97697296 |
| Gene | XPA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800975 |
| dbSNP (classic) | rs1800975 |
| ClinGen | rs1800975 |
| ebi | rs1800975 |
| HLI | rs1800975 |
| Exac | rs1800975 |
| Gnomad | rs1800975 |
| Varsome | rs1800975 |
| LitVar | rs1800975 |
| Map | rs1800975 |
| PheGenI | rs1800975 |
| Biobank | rs1800975 |
| 1000 genomes | rs1800975 |
| hgdp | rs1800975 |
| ensembl | rs1800975 |
| geneview | rs1800975 |
| scholar | rs1800975 |
| rs1800975 | |
| pharmgkb | rs1800975 |
| gwascentral | rs1800975 |
| openSNP | rs1800975 |
| 23andMe | rs1800975 |
| SNPshot | rs1800975 |
| SNPdbe | rs1800975 |
| MSV3d | rs1800975 |
| GWAS Ctlg | rs1800975 |
| GMAF | 0.3466 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20056640] Genetic variants of nucleotide excision repair genes are associated with DNA damage in coke oven workers
[PMID 21751184] SNP-SNP interactions between DNA repair genes were associated with breast cancer risk in a Korean population
[PMID 21129811] Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer
[PMID 16465622
] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 17687452] Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.
[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
[PMID 21195504] Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.
[PMID 23617681] Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis
[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 25715450] [DNA repair XRCC1, XPD genes polymorphism as associated with the development of bladder cancer and renal cell carcinoma]
| ClinVar | |
|---|---|
| Risk | rs1800975(C;C) rs1800975(G;G) |
| Alt | rs1800975(C;C) rs1800975(G;G) |
| Reference | Rs1800975(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | XPA |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000009.11:g.100459578T>C |
| CLNSRC | |
| CLNACC | RCV000170427.2, RCV000286055.1, |
[PMID 26159902] DNA Repair Gene Polymorphisms in Relation to Non-Small Cell Lung Cancer Survival
