rs1057519559
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAAA;CAAA) | 0 | common in clinvar |
Make rs1057519559(-;-) |
Make rs1057519559(-;AACA) |
Make rs1057519559(AACA;AACA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 32339516 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519559 |
dbSNP (classic) | rs1057519559 |
ClinGen | rs1057519559 |
ebi | rs1057519559 |
HLI | rs1057519559 |
Exac | rs1057519559 |
Gnomad | rs1057519559 |
Varsome | rs1057519559 |
LitVar | rs1057519559 |
Map | rs1057519559 |
PheGenI | rs1057519559 |
Biobank | rs1057519559 |
1000 genomes | rs1057519559 |
hgdp | rs1057519559 |
ensembl | rs1057519559 |
geneview | rs1057519559 |
scholar | rs1057519559 |
rs1057519559 | |
pharmgkb | rs1057519559 |
gwascentral | rs1057519559 |
openSNP | rs1057519559 |
23andMe | rs1057519559 |
SNPshot | rs1057519559 |
SNPdbe | rs1057519559 |
MSV3d | rs1057519559 |
GWAS Ctlg | rs1057519559 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519559(-;-) |
Alt | rs1057519559(-;-) |
Reference | Rs1057519559(CAAA;CAAA) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32913653_32913656delAACA |
CLNSRC | |
CLNACC | RCV000417007.1, |