rs786203053
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 6 | Breast cancer associated mutation |
(D;D) | 0 | common genotype |
Make rs786203053(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 22 |
Position | 28699925 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs786203053 |
dbSNP (classic) | rs786203053 |
ClinGen | rs786203053 |
ebi | rs786203053 |
HLI | rs786203053 |
Exac | rs786203053 |
Gnomad | rs786203053 |
Varsome | rs786203053 |
LitVar | rs786203053 |
Map | rs786203053 |
PheGenI | rs786203053 |
Biobank | rs786203053 |
1000 genomes | rs786203053 |
hgdp | rs786203053 |
ensembl | rs786203053 |
geneview | rs786203053 |
scholar | rs786203053 |
rs786203053 | |
pharmgkb | rs786203053 |
gwascentral | rs786203053 |
openSNP | rs786203053 |
23andMe | rs786203053 |
SNPshot | rs786203053 |
SNPdbe | rs786203053 |
MSV3d | rs786203053 |
GWAS Ctlg | rs786203053 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786203053(G;G) |
Alt | rs786203053(G;G) |
Reference | Rs786203053(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.29095914dupC |
CLNSRC | |
CLNACC | RCV000166190.1, RCV000483271.1, |