rs200432447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200432447(C;C) |
Make rs200432447(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 28687974 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs200432447 |
dbSNP (classic) | rs200432447 |
ClinGen | rs200432447 |
ebi | rs200432447 |
HLI | rs200432447 |
Exac | rs200432447 |
Gnomad | rs200432447 |
Varsome | rs200432447 |
LitVar | rs200432447 |
Map | rs200432447 |
PheGenI | rs200432447 |
Biobank | rs200432447 |
1000 genomes | rs200432447 |
hgdp | rs200432447 |
ensembl | rs200432447 |
geneview | rs200432447 |
scholar | rs200432447 |
rs200432447 | |
pharmgkb | rs200432447 |
gwascentral | rs200432447 |
openSNP | rs200432447 |
23andMe | rs200432447 |
SNPshot | rs200432447 |
SNPdbe | rs200432447 |
MSV3d | rs200432447 |
GWAS Ctlg | rs200432447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200432447(A;A) rs200432447(C;C) |
Alt | rs200432447(A;A) rs200432447(C;C) |
Reference | Rs200432447(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast and colorectal cancer not provided Familial cancer of breast |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast and colorectal cancer, susceptibility to not provided Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000022.10:g.29083962G>A |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000116005.6, RCV000210124.1, RCV000212474.2, RCV000471222.1, |