Rs11523871
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs11523871 |
| hapmap | rs11523871 |
| hgdp | rs11523871 |
| ensembl | rs11523871 |
| gopubmed | rs11523871 |
| scholar | rs11523871 |
| rs11523871 | |
| pharmgkb | rs11523871 |
| hgvbaseg2p | rs11523871 |
| medrefsnp | rs11523871 |
| 23andMe | rs11523871 |
| SNP Nexus |
| Gene | DMBT1 |
| Chromosome | 10 |
| Orientation | plus |
| Position | 124319699 |
| Genotype | Effect |
|---|---|
| rs11523871(A;A) | normal |
| rs11523871(A;C) | 1.6x increased breast cancer risk for women over 60 |
| rs11523871(C;C) | >1.6x increased breast cancer risk for women over 60 |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs11523871(A;A) | normal | |
| Rs11523871(A;C) | 1.61.6 | 1.6x increased breast cancer risk for women over 60 |
| Rs11523871(C;C) | 1.61.6 | >1.6x increased breast cancer risk for women over 60 |
rs11523871, also known as 124A>C or Thr42Pro, is a SNP in the Deleted in Malignant Brain Tumors 1 DMBT1 gene.
For more information about increased breast cancer risk for this SNP, see the SNPedia entry for rs2981745, to which it is tightly linked.[PMID 19830809]
| Venter snp | |
|---|---|
| Source | plos |
| Gene | DMBT1 |
| allele | A |
| frequency | |
| sift | |
| HuRef | 1103694078106 |
| Disease Association | Inactivation of DMBT1 plays an important role in carcinogenesis. A loss or reduction of DMBT1 expression was seen in esophageal, gastric, lung and colorectal carcinomas. Deleted in medulloblastoma and glioblastoma cell lines. Homozygous deletions may be the predominant mechanism of inactivation. |
| ? | (A;A) (A;C) (C;C) |
|---|---|
|
| |
| Neighbor | rs3013236 |
| Distance | 717 |
