{{Rsnum
|rsid=910873
|Gene=PIGU
|Chromosome=20
|position=34583968
|Orientation=plus
|GMAF=0.02158
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=melanoma, squamous cell carcinoma
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PIGU
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 15.0 | 84.1
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 3.4 | 96.6
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 5.9 | 94.1
| HapMapRevision=28
}}
{{CPMC SNP
|link=http://cpmc.coriell.org/Sections/Genes/Melanoma2.aspx?PgId=190
}}

{{PMID|18488026|OA=1
}} 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 Summary
|SNP=rs910873
|PubMedID=18488026
|Condition=Melanoma
|Gene=CDC91L1
|Risk Allele=T
|pValue=1.00E-015
|OR=1.75
|95CI=1.53-2.01
|OA=1
}}

{{omim
|desc=MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7
|id=612263
|rsnum=910873
}}

{{PharmGKB
|RSID=rs910873
|Name_s=
|Gene_s=PIGU
|Feature=
|Evidence=PubMed ID:18488026; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Common sequence variants on 20q11.22 confer melanoma susceptibility (Initial Sample Size: 864 cases, 864 controls; Replication Sample Size: 1,230 cases, 1,251 controls; Risk Allele: rs910873-T). This variant is associated with Melanoma.
|Drugs=
|Drug Classes=
|Diseases=Melanoma
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356415
}}

{{PharmGKB
|RSID=rs910873
|Name_s=
|Gene_s=PIGU
|Feature=
|Evidence=PubMed ID:18488026
|Annotation=SNP on chromosome 20 is highly associated with melanoma risk. rs910873 (and, through LD, rs1885120) seems to be related to early onset.
|Drugs=
|Drug Classes=
|Diseases=Melanoma
|Curation Level=Curated
|PharmGKB Accession ID=PA161925569
}}

{{PMID Auto
|PMID=21221757
|OA=1
}} 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 Auto
|PMID=19209086
|Title=Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma.
|OA=1
}}

{{PMID Auto
|PMID=19578364
|Title=Genome-wide association study identifies three loci associated with melanoma risk.
|OA=1
}}

{{PMID Auto
|PMID=19995372
|OA=1
}} Similarly to the study mentioned above ({{PMID Auto
|PMID=21221757
|OA=1
}}) 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 Auto
|PMID=20224305
|Title=Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs910873
|overall_frequency_n=2
|overall_frequency_d=128
|overall_frequency=0.015625
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23393597
|Title=Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
|OA=1
}}

{{PMID Auto
|PMID=22628150
|Title=Variants at chromosome 20 (ASIP locus) and melanoma risk.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}