rs786204280
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs786204280(A;A) |
Make rs786204280(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32354860 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204280 |
dbSNP (classic) | rs786204280 |
ClinGen | rs786204280 |
ebi | rs786204280 |
HLI | rs786204280 |
Exac | rs786204280 |
Gnomad | rs786204280 |
Varsome | rs786204280 |
LitVar | rs786204280 |
Map | rs786204280 |
PheGenI | rs786204280 |
Biobank | rs786204280 |
1000 genomes | rs786204280 |
hgdp | rs786204280 |
ensembl | rs786204280 |
geneview | rs786204280 |
scholar | rs786204280 |
rs786204280 | |
pharmgkb | rs786204280 |
gwascentral | rs786204280 |
openSNP | rs786204280 |
23andMe | rs786204280 |
SNPshot | rs786204280 |
SNPdbe | rs786204280 |
MSV3d | rs786204280 |
GWAS Ctlg | rs786204280 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786204280(A;A) rs786204280(T;T) |
Alt | rs786204280(A;A) rs786204280(T;T) |
Reference | Rs786204280(G;G) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32928997G>A; NC_000013.10:g.32928997G>T |
CLNSRC | |
CLNACC | RCV000168595.2, RCV000258461.1, RCV000258224.1, |