rs864622453
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AGAA) | 6 | Breast cancer associated mutation |
Make rs864622453(AGAA;AGAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28725085 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622453 |
dbSNP (classic) | rs864622453 |
ClinGen | rs864622453 |
ebi | rs864622453 |
HLI | rs864622453 |
Exac | rs864622453 |
Gnomad | rs864622453 |
Varsome | rs864622453 |
LitVar | rs864622453 |
Map | rs864622453 |
PheGenI | rs864622453 |
Biobank | rs864622453 |
1000 genomes | rs864622453 |
hgdp | rs864622453 |
ensembl | rs864622453 |
geneview | rs864622453 |
scholar | rs864622453 |
rs864622453 | |
pharmgkb | rs864622453 |
gwascentral | rs864622453 |
openSNP | rs864622453 |
23andMe | rs864622453 |
SNPshot | rs864622453 |
SNPdbe | rs864622453 |
MSV3d | rs864622453 |
GWAS Ctlg | rs864622453 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs864622453(AGAA;AGAA) |
Alt | rs864622453(AGAA;AGAA) |
Reference | Rs864622453(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast |
Variation | info |
Gene | CHEK2 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000022.10:g.29121074_29121077dupTTCT |
CLNSRC | |
CLNACC | RCV000206009.1, |