rs876659250
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Breast cancer associated mutation |
Make rs876659250(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28694034 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs876659250 |
dbSNP (classic) | rs876659250 |
ClinGen | rs876659250 |
ebi | rs876659250 |
HLI | rs876659250 |
Exac | rs876659250 |
Gnomad | rs876659250 |
Varsome | rs876659250 |
LitVar | rs876659250 |
Map | rs876659250 |
PheGenI | rs876659250 |
Biobank | rs876659250 |
1000 genomes | rs876659250 |
hgdp | rs876659250 |
ensembl | rs876659250 |
geneview | rs876659250 |
scholar | rs876659250 |
rs876659250 | |
pharmgkb | rs876659250 |
gwascentral | rs876659250 |
openSNP | rs876659250 |
23andMe | rs876659250 |
SNPshot | rs876659250 |
SNPdbe | rs876659250 |
MSV3d | rs876659250 |
GWAS Ctlg | rs876659250 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs876659250(T;T) |
Alt | rs876659250(T;T) |
Reference | Rs876659250(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000022.10:g.29090022G>A |
CLNSRC | |
CLNACC | RCV000214536.1, |