rs794727014
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TAGAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TAGAT;TAGAT) | 0 | common in clinvar |
Make rs794727014(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32340078 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs794727014 |
dbSNP (classic) | rs794727014 |
ClinGen | rs794727014 |
ebi | rs794727014 |
HLI | rs794727014 |
Exac | rs794727014 |
Gnomad | rs794727014 |
Varsome | rs794727014 |
LitVar | rs794727014 |
Map | rs794727014 |
PheGenI | rs794727014 |
Biobank | rs794727014 |
1000 genomes | rs794727014 |
hgdp | rs794727014 |
ensembl | rs794727014 |
geneview | rs794727014 |
scholar | rs794727014 |
rs794727014 | |
pharmgkb | rs794727014 |
gwascentral | rs794727014 |
openSNP | rs794727014 |
23andMe | rs794727014 |
SNPshot | rs794727014 |
SNPdbe | rs794727014 |
MSV3d | rs794727014 |
GWAS Ctlg | rs794727014 |
Max Magnitude | 6 |
aka c.5723_5727delTAGAT
ClinVar | |
---|---|
Risk | rs794727014(-;-) |
Alt | rs794727014(-;-) |
Reference | Rs794727014(TAGAT;TAGAT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32914215_32914219delTAGAT |
CLNSRC | |
CLNACC | RCV000173957.2, |