| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For this particular SNP, the risk (minor) allele is (G).
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry or BRCA1 and BRCA2.
| Venter snp
|
| Source
|
plos
|
| Gene
|
BRCA1
|
| allele
|
C
|
| frequency
|
0.356
|
| sift
|
TOLERATED
|
| HuRef
|
1103645327477
|
| Disease Association
|
Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer (MIM:113705).
|
[PMID 21890493] Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
[PMID 19644020] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
| GET Evidence
|
| BRCA1-K1183R
|
| aa_change
|
Lys1183Arg
|
| aa_change_short
|
K1183R
|
| impact
|
not reviewed
|
| qualified_impact
|
Insufficiently evaluated not reviewed
|
| overall_frequency
|
0.294664
|
| summary
|
|
