rs786202497
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786202497(-;-) |
Make rs786202497(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 22 |
Position | 28719423 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs786202497 |
dbSNP (classic) | rs786202497 |
ClinGen | rs786202497 |
ebi | rs786202497 |
HLI | rs786202497 |
Exac | rs786202497 |
Gnomad | rs786202497 |
Varsome | rs786202497 |
LitVar | rs786202497 |
Map | rs786202497 |
PheGenI | rs786202497 |
Biobank | rs786202497 |
1000 genomes | rs786202497 |
hgdp | rs786202497 |
ensembl | rs786202497 |
geneview | rs786202497 |
scholar | rs786202497 |
rs786202497 | |
pharmgkb | rs786202497 |
gwascentral | rs786202497 |
openSNP | rs786202497 |
23andMe | rs786202497 |
SNPshot | rs786202497 |
SNPdbe | rs786202497 |
MSV3d | rs786202497 |
GWAS Ctlg | rs786202497 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786202497(-;-) |
Alt | rs786202497(-;-) |
Reference | Rs786202497(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000022.10:g.29115411delC |
CLNSRC | |
CLNACC | RCV000165339.2, |