rs786203031
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GTGGACTGCTGGAGTT) | 6 | Breast cancer associated mutation |
(GTGGACTGCTGGAGTT;GTGGACTGCTGGAGTT) | 0 | common in clinvar |
Make rs786203031(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 22 |
Position | 28695732 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs786203031 |
dbSNP (classic) | rs786203031 |
ClinGen | rs786203031 |
ebi | rs786203031 |
HLI | rs786203031 |
Exac | rs786203031 |
Gnomad | rs786203031 |
Varsome | rs786203031 |
LitVar | rs786203031 |
Map | rs786203031 |
PheGenI | rs786203031 |
Biobank | rs786203031 |
1000 genomes | rs786203031 |
hgdp | rs786203031 |
ensembl | rs786203031 |
geneview | rs786203031 |
scholar | rs786203031 |
rs786203031 | |
pharmgkb | rs786203031 |
gwascentral | rs786203031 |
openSNP | rs786203031 |
23andMe | rs786203031 |
SNPshot | rs786203031 |
SNPdbe | rs786203031 |
MSV3d | rs786203031 |
GWAS Ctlg | rs786203031 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786203031(-;-) |
Alt | rs786203031(-;-) |
Reference | Rs786203031(GTGGACTGCTGGAGTT;GTGGACTGCTGGAGTT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000022.10:g.29091720_29091735del16 |
CLNSRC | |
CLNACC | RCV000166159.1, |