rs28909980
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28909980(A;A) |
Make rs28909980(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28696957 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs28909980 |
dbSNP (classic) | rs28909980 |
ClinGen | rs28909980 |
ebi | rs28909980 |
HLI | rs28909980 |
Exac | rs28909980 |
Gnomad | rs28909980 |
Varsome | rs28909980 |
LitVar | rs28909980 |
Map | rs28909980 |
PheGenI | rs28909980 |
Biobank | rs28909980 |
1000 genomes | rs28909980 |
hgdp | rs28909980 |
ensembl | rs28909980 |
geneview | rs28909980 |
scholar | rs28909980 |
rs28909980 | |
pharmgkb | rs28909980 |
gwascentral | rs28909980 |
openSNP | rs28909980 |
23andMe | rs28909980 |
SNPshot | rs28909980 |
SNPdbe | rs28909980 |
MSV3d | rs28909980 |
GWAS Ctlg | rs28909980 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs28909980(A;A) |
Alt | rs28909980(A;A) |
Reference | Rs28909980(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CHEK2 |
CLNDBN | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000022.10:g.29092945C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000160431.3, RCV000205583.2, RCV000221549.1, |