Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
ATF1 c.*203T>C
(
ENST00000262053.8 )
NSRP1 c.20+302A>C ( ENST00000247026.10, ENST00000612959.4, ENST00000584423.5, ENST00000479218.6 )
NSRP1 c.20+302A>T ( ENST00000479218.6, ENST00000247026.10, ENST00000584423.5, ENST00000612959.4 )
MIR27A SNV
rs895819
MIR27A SNV
ATF1 c.*203T>C ( ENST00000262053.8 )
NSRP1 c.20+302A>C ( ENST00000247026.10, ENST00000479218.6, ENST00000584423.5, ENST00000612959.4 )
NSRP1 c.20+302A>T ( ENST00000247026.10, ENST00000479218.6, ENST00000584423.5, ENST00000612959.4 )
MIR27A SNV
rs895819
MIR27A SNV - Associated Disease
- ovarian carcinoma
- Source Database
- DisGeNET
- Description
- Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted in BRCA2 mutation carriers by health status in 3 SNPs: CC homozygosity at rs6505162 increased ovarian cancer risk (RR 2.77; p = 0.028; 95% CI, 1.11-6.9); heterozygote SNP carriers of rs11169571 had an approximately 2 fold increased risk for developing breast/ovarian cancer, whereas heterozygotes of the rs895819 SNP had an approximately 50% reduced risk for developing breast/ovarian cancer.
- Pubmed
- 19950226
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2010
Drugs