rs747070579
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 rs747070579(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32338358 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs747070579 |
dbSNP (classic) | rs747070579 |
ClinGen | rs747070579 |
ebi | rs747070579 |
HLI | rs747070579 |
Exac | rs747070579 |
Gnomad | rs747070579 |
Varsome | rs747070579 |
LitVar | rs747070579 |
Map | rs747070579 |
PheGenI | rs747070579 |
Biobank | rs747070579 |
1000 genomes | rs747070579 |
hgdp | rs747070579 |
ensembl | rs747070579 |
geneview | rs747070579 |
scholar | rs747070579 |
rs747070579 | |
pharmgkb | rs747070579 |
gwascentral | rs747070579 |
openSNP | rs747070579 |
23andMe | rs747070579 |
SNPshot | rs747070579 |
SNPdbe | rs747070579 |
MSV3d | rs747070579 |
GWAS Ctlg | rs747070579 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs747070579(T;T) |
Alt | rs747070579(T;T) |
Reference | Rs747070579(G;G) |
Significance | Other |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32912495G>T |
CLNSRC | |
CLNACC | RCV000220552.1, RCV000241203.2, RCV000257988.1, |