rs200928781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200928781(C;C) |
Make rs200928781(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 28695800 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs200928781 |
dbSNP (classic) | rs200928781 |
ClinGen | rs200928781 |
ebi | rs200928781 |
HLI | rs200928781 |
Exac | rs200928781 |
Gnomad | rs200928781 |
Varsome | rs200928781 |
LitVar | rs200928781 |
Map | rs200928781 |
PheGenI | rs200928781 |
Biobank | rs200928781 |
1000 genomes | rs200928781 |
hgdp | rs200928781 |
ensembl | rs200928781 |
geneview | rs200928781 |
scholar | rs200928781 |
rs200928781 | |
pharmgkb | rs200928781 |
gwascentral | rs200928781 |
openSNP | rs200928781 |
23andMe | rs200928781 |
SNPshot | rs200928781 |
SNPdbe | rs200928781 |
MSV3d | rs200928781 |
GWAS Ctlg | rs200928781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200928781(A;A) rs200928781(C;C) rs200928781(G;G) |
Alt | rs200928781(A;A) rs200928781(C;C) rs200928781(G;G) |
Reference | Rs200928781(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | CHEK2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.29091788T>C; NC_000022.10:g.29091788T>G |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000475251.1, RCV000130486.4, RCV000206869.3, RCV000222009.1, |