rs869320800
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GTAAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAAGT;AAAGT) | 0 | common in clinvar |
Make rs869320800(-;-) |
Make rs869320800(GTAAA;GTAAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32379849 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs869320800 |
dbSNP (classic) | rs869320800 |
ClinGen | rs869320800 |
ebi | rs869320800 |
HLI | rs869320800 |
Exac | rs869320800 |
Gnomad | rs869320800 |
Varsome | rs869320800 |
LitVar | rs869320800 |
Map | rs869320800 |
PheGenI | rs869320800 |
Biobank | rs869320800 |
1000 genomes | rs869320800 |
hgdp | rs869320800 |
ensembl | rs869320800 |
geneview | rs869320800 |
scholar | rs869320800 |
rs869320800 | |
pharmgkb | rs869320800 |
gwascentral | rs869320800 |
openSNP | rs869320800 |
23andMe | rs869320800 |
SNPshot | rs869320800 |
SNPdbe | rs869320800 |
MSV3d | rs869320800 |
GWAS Ctlg | rs869320800 |
Max Magnitude | 6 |
aka c.9053_9057delGTAAA
ClinVar | |
---|---|
Risk | rs869320800(-;-) |
Alt | rs869320800(-;-) |
Reference | Rs869320800(AAAGT;AAAGT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32953986_32953990delGTAAA |
CLNSRC | |
CLNACC | RCV000210999.1, |