rs1805129
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs1805129(A;G) |
Make rs1805129(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 28734470 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs1805129 |
dbSNP (classic) | rs1805129 |
ClinGen | rs1805129 |
ebi | rs1805129 |
HLI | rs1805129 |
Exac | rs1805129 |
Gnomad | rs1805129 |
Varsome | rs1805129 |
LitVar | rs1805129 |
Map | rs1805129 |
PheGenI | rs1805129 |
Biobank | rs1805129 |
1000 genomes | rs1805129 |
hgdp | rs1805129 |
ensembl | rs1805129 |
geneview | rs1805129 |
scholar | rs1805129 |
rs1805129 | |
pharmgkb | rs1805129 |
gwascentral | rs1805129 |
openSNP | rs1805129 |
23andMe | rs1805129 |
SNPshot | rs1805129 |
SNPdbe | rs1805129 |
MSV3d | rs1805129 |
GWAS Ctlg | rs1805129 |
GMAF | 0.04362 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
This SNP represents a silent polymorphism in the cancer-associated cell cycle regulator CHEK2 gene.
ClinVar | |
---|---|
Risk | rs1805129(G;G) |
Alt | rs1805129(G;G) |
Reference | Rs1805129(A;A) |
Significance | Probable-non-pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified Colorectal cancer Neoplasm of breast Familial cancer of breast |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome not specified Colorectal cancer Neoplasm of breast Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000022.10:g.29130458T>C |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000130990.2, RCV000248875.1, RCV000340140.1, RCV000391347.1, RCV000412125.1, |