rs786202789
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TACC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs786202789(TACC;TACC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32332644 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs786202789 |
dbSNP (classic) | rs786202789 |
ClinGen | rs786202789 |
ebi | rs786202789 |
HLI | rs786202789 |
Exac | rs786202789 |
Gnomad | rs786202789 |
Varsome | rs786202789 |
LitVar | rs786202789 |
Map | rs786202789 |
PheGenI | rs786202789 |
Biobank | rs786202789 |
1000 genomes | rs786202789 |
hgdp | rs786202789 |
ensembl | rs786202789 |
geneview | rs786202789 |
scholar | rs786202789 |
rs786202789 | |
pharmgkb | rs786202789 |
gwascentral | rs786202789 |
openSNP | rs786202789 |
23andMe | rs786202789 |
SNPshot | rs786202789 |
SNPdbe | rs786202789 |
MSV3d | rs786202789 |
GWAS Ctlg | rs786202789 |
Max Magnitude | 6 |
aka c.1163_1166dupTACC (p.Ser390Thrfs)
ClinVar | |
---|---|
Risk | rs786202789(TACC;TACC) |
Alt | rs786202789(TACC;TACC) |
Reference | Rs786202789(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32906778_32906781dupTACC |
CLNSRC | |
CLNACC | RCV000165777.1, RCV000241144.1, |