From SNPedia
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
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Although the function of this SNP is unknown, further analysis by the CGEMS team found that this region is predominately associated with estrogen receptor-positive
breast cancer. From one person's DeCode report, it appears that the risk allele is C (relative risk 1.18 with two copies; apparently this information comes from a study or studies involving 9,335 cases and 10,263 controls).
[PMID 19330030] A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
| PharmGKB | PA164739885 |
| Name | |
| Annotation | GWAS results: A multistage genome-wide association study in Breast Cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). (Initial Sample Size: 1,145 cases, 1,142 controls; Replication Sample Size: 8,625 cases, 9,657 controls); (Region: 1p11.2; Reported Gene(s): Intergenic; Risk Allele: rs11249433-C); (p-value= 0.0000000007).This variant is associated with Breast Cancer. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:19330030; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Breast Neoplasms |
| Curation Level | Non-Curated |
[PMID 20482849] NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations
