rs80359775
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TATG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TATG;TATG) | 0 | common in clinvar |
(TGTA;TGTA) | 0 | common in clinvar |
Make rs80359775(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32398212 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359775 |
dbSNP (classic) | rs80359775 |
ClinGen | rs80359775 |
ebi | rs80359775 |
HLI | rs80359775 |
Exac | rs80359775 |
Gnomad | rs80359775 |
Varsome | rs80359775 |
LitVar | rs80359775 |
Map | rs80359775 |
PheGenI | rs80359775 |
Biobank | rs80359775 |
1000 genomes | rs80359775 |
hgdp | rs80359775 |
ensembl | rs80359775 |
geneview | rs80359775 |
scholar | rs80359775 |
rs80359775 | |
pharmgkb | rs80359775 |
gwascentral | rs80359775 |
openSNP | rs80359775 |
23andMe | rs80359775 |
SNPshot | rs80359775 |
SNPdbe | rs80359775 |
MSV3d | rs80359775 |
GWAS Ctlg | rs80359775 |
Merged from | Rs781465150 |
Max Magnitude | 6 |
aka c.9699_9702delTATG
23andMe name: i5010464
ClinVar | |
---|---|
Risk | rs80359775(-;-) Rs80359775(TGTA;TGTA) |
Alt | rs80359775(-;-) Rs80359775(TGTA;TGTA) |
Reference | Rs80359775(TATG;TATG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified |
Reversed | 0 |
HGVS | NC_000013.10:g.32972349_32972352delTATG |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031843.10, RCV000131044.3, RCV000168365.3, RCV000200978.3, |