rs910873
| melanoma, squamous cell carcinoma |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | 3x increased risk of melanoma |
| (A;G) | 3 | 1.7x increased risk of melanoma; increased risk of squamous cell carcinoma |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 34583968 |
| Gene | PIGU |
| is a | snp |
| is | mentioned by |
| dbSNP | rs910873 |
| dbSNP (classic) | rs910873 |
| ClinGen | rs910873 |
| ebi | rs910873 |
| HLI | rs910873 |
| Exac | rs910873 |
| Gnomad | rs910873 |
| Varsome | rs910873 |
| LitVar | rs910873 |
| Map | rs910873 |
| PheGenI | rs910873 |
| Biobank | rs910873 |
| 1000 genomes | rs910873 |
| hgdp | rs910873 |
| ensembl | rs910873 |
| geneview | rs910873 |
| scholar | rs910873 |
| rs910873 | |
| pharmgkb | rs910873 |
| gwascentral | rs910873 |
| openSNP | rs910873 |
| 23andMe | rs910873 |
| SNPshot | rs910873 |
| SNPdbe | rs910873 |
| MSV3d | rs910873 |
| GWAS Ctlg | rs910873 |
| GMAF | 0.02158 |
| Max Magnitude | 4 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
[PMID 18488026
] A total of 2,019 cutaneous melanoma cases and 2,105 controls (Australians of European descent) were included in this genome-wide pooling association study. Using pooling, a new melanoma risk locus was identified on chromosome 20 (rs910873 and rs1885120; combined P < 1E-15. The per allele odds ratio was 1.75 (95% CI, 1.53-2.01), with evidence for stronger association in early-onset cases (age ≤40 OR, 1.83 (95% CI, 1.39-2.41); age >40 OR, 1.30 (95% CI, 1.00-1.69)).
| GWAS | |
|---|---|
| SNP | rs910873 |
| PubMedID | [PMID 18488026]
|
| Condition | Melanoma |
| Gene | CDC91L1 |
| Risk Allele | T |
| pValue | 1.00E-015 |
| OR | 1.75 |
| 95% CI | 1.53-2.01 |
[PMID 21221757] This study, which was conducted within the Nurses' Health Study, included 492 cases of non-melanoma skin cancer (NMSC; basal cell and squamous cell carcinomas) and 619 controls. The subjects were all Caucasian women, and the follow-up period was 28 years. rs910873, an ASIP gene-related SNP, was found to be associated with an increased number of NMSCs: age-adjusted odds ratio (OR): 1.43 (95% CI, 1.09–1.89) (p = 0.01). A pooled analysis of 1507 NMSC cases and 4335 controls confirmed that rs910873 was associated with an increased risk of NMSC (age-adjusted OR, 1.35; 95% CI, 1.20-1.53; p = 8.4E-7).
[PMID 19209086] Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma.
[PMID 19578364] Genome-wide association study identifies three loci associated with melanoma risk.
[PMID 19995372] Similarly to the study mentioned above (
[PMID 21221757] ) this nested case-control study was based on the Nurses Health Study (NHS) and examined the correlation between rs910873 and skin cancer in a Caucasian population. This study included 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCS) cases, and 870 age-matched controls. rs910873 was found to be significantly associated with increased risks of melanoma and SCC (but not BSC) in both additive (additive OR for melanoma, 1.67; 95% CI, 1.19–2.34; additive OR for SCC, 1.51; 95% CI, 1.09-2.10) and dominant models (G;A or A;A; dominant OR for melanoma, 1.81; 95% CI, 1.23-2.67; dominant OR for SCC, 1.70; 95% CI, 1.19-2.43). P for trends = 0.01 and 0.003 for melanoma and SCC, respectively.
[PMID 20224305] Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.
[PMID 23393597] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
[PMID 22628150] Variants at chromosome 20 (ASIP locus) and melanoma risk.
