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rs910873

From SNPedia

melanoma, squamous cell carcinoma
Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome20
Position34583968
GenePIGU
is asnp
is mentioned by
dbSNPrs910873
ebirs910873
HLIrs910873
Exacrs910873
Varsomers910873
Maprs910873
PheGenIrs910873
hapmaprs910873
1000 genomesrs910873
hgdprs910873
ensemblrs910873
gopubmedrs910873
geneviewrs910873
scholarrs910873
googlers910873
pharmgkbrs910873
gwascentralrs910873
openSNPrs910873
23andMers910873
23andMe allrs910873
SNP Nexus

SNPshotrs910873
SNPdbers910873
MSV3drs910873
GWAS Ctlgrs910873
GMAF0.02158
Max Magnitude4
? (A;A) (A;G) (G;G) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

[PMID 18488026OA-icon.png] 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 18488026OA-icon.png]
Condition Melanoma
Gene CDC91L1
Risk Allele T
pValue 1.00E-015
OR 1.75
95% CI 1.53-2.01


OMIM612263
DescMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7
Variant
Relatedalso
[PMID 21221757OA-icon.png] 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 19209086OA-icon.png] Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma.


[PMID 19578364OA-icon.png] Genome-wide association study identifies three loci associated with melanoma risk.


[PMID 19995372OA-icon.png] Similarly to the study mentioned above ( [PMID 21221757OA-icon.png] ) 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.


GET Evidence
rs910873
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.015625
summary



[PMID 23393597OA-icon.png] 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.