rs587781648
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TCTAGGACTTGCCCCTTTCGTCTATTT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TTCTAGGACTTGCCCCTTTCGTCTATT;TTCTAGGACTTGCCCCTTTCGTCTATT) | 0 | common in clinvar |
Make rs587781648(-;-) |
Make rs587781648(TCTAGGACTTGCCCCTTTCGTCTATTT;TCTAGGACTTGCCCCTTTCGTCTATTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32394684 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587781648 |
dbSNP (classic) | rs587781648 |
ClinGen | rs587781648 |
ebi | rs587781648 |
HLI | rs587781648 |
Exac | rs587781648 |
Gnomad | rs587781648 |
Varsome | rs587781648 |
LitVar | rs587781648 |
Map | rs587781648 |
PheGenI | rs587781648 |
Biobank | rs587781648 |
1000 genomes | rs587781648 |
hgdp | rs587781648 |
ensembl | rs587781648 |
geneview | rs587781648 |
scholar | rs587781648 |
rs587781648 | |
pharmgkb | rs587781648 |
gwascentral | rs587781648 |
openSNP | rs587781648 |
23andMe | rs587781648 |
SNPshot | rs587781648 |
SNPdbe | rs587781648 |
MSV3d | rs587781648 |
GWAS Ctlg | rs587781648 |
Max Magnitude | 6 |
aka c.9257-5_9278del
ClinVar | |
---|---|
Risk | rs587781648(-;-) |
Alt | rs587781648(-;-) |
Reference | Rs587781648(TTCTAGGACTTGCCCCTTTCGTCTATT;TTCTAGGACTTGCCCCTTTCGTCTATT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32968821_32968847del27 |
CLNSRC | |
CLNACC | RCV000129779.2, |