rs397507634
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397507634(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32336967 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507634 |
dbSNP (classic) | rs397507634 |
ClinGen | rs397507634 |
ebi | rs397507634 |
HLI | rs397507634 |
Exac | rs397507634 |
Gnomad | rs397507634 |
Varsome | rs397507634 |
LitVar | rs397507634 |
Map | rs397507634 |
PheGenI | rs397507634 |
Biobank | rs397507634 |
1000 genomes | rs397507634 |
hgdp | rs397507634 |
ensembl | rs397507634 |
geneview | rs397507634 |
scholar | rs397507634 |
rs397507634 | |
pharmgkb | rs397507634 |
gwascentral | rs397507634 |
openSNP | rs397507634 |
23andMe | rs397507634 |
SNPshot | rs397507634 |
SNPdbe | rs397507634 |
MSV3d | rs397507634 |
GWAS Ctlg | rs397507634 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507634(A;A) rs397507634(G;G) |
Alt | rs397507634(A;A) rs397507634(G;G) |
Reference | Rs397507634(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32911104C>A; NC_000013.10:g.32911104C>G |
CLNSRC | ClinVar |
CLNACC | RCV000044026.2, RCV000077282.4, RCV000213349.1, RCV000167495.1, RCV000241282.1, RCV000255430.1, |