rs587782707
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AG) | 6 | Breast cancer associated mutation |
Make rs587782707(AG;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 28689173 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782707 |
dbSNP (classic) | rs587782707 |
ClinGen | rs587782707 |
ebi | rs587782707 |
HLI | rs587782707 |
Exac | rs587782707 |
Gnomad | rs587782707 |
Varsome | rs587782707 |
LitVar | rs587782707 |
Map | rs587782707 |
PheGenI | rs587782707 |
Biobank | rs587782707 |
1000 genomes | rs587782707 |
hgdp | rs587782707 |
ensembl | rs587782707 |
geneview | rs587782707 |
scholar | rs587782707 |
rs587782707 | |
pharmgkb | rs587782707 |
gwascentral | rs587782707 |
openSNP | rs587782707 |
23andMe | rs587782707 |
SNPshot | rs587782707 |
SNPdbe | rs587782707 |
MSV3d | rs587782707 |
GWAS Ctlg | rs587782707 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587782707(AG;AG) |
Alt | rs587782707(AG;AG) |
Reference | Rs587782707(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000022.10:g.29085162_29085163dupCT |
CLNSRC | |
CLNACC | RCV000132173.3, |