rs121908702
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Breast cancer associated mutation |
Make rs121908702(A;A) |
Make rs121908702(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 28711986 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908702 |
dbSNP (classic) | rs121908702 |
ClinGen | rs121908702 |
ebi | rs121908702 |
HLI | rs121908702 |
Exac | rs121908702 |
Gnomad | rs121908702 |
Varsome | rs121908702 |
LitVar | rs121908702 |
Map | rs121908702 |
PheGenI | rs121908702 |
Biobank | rs121908702 |
1000 genomes | rs121908702 |
hgdp | rs121908702 |
ensembl | rs121908702 |
geneview | rs121908702 |
scholar | rs121908702 |
rs121908702 | |
pharmgkb | rs121908702 |
gwascentral | rs121908702 |
openSNP | rs121908702 |
23andMe | rs121908702 |
SNPshot | rs121908702 |
SNPdbe | rs121908702 |
MSV3d | rs121908702 |
GWAS Ctlg | rs121908702 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs121908702(A;A) rs121908702(T;T) |
Alt | rs121908702(A;A) rs121908702(T;T) |
Reference | Rs121908702(G;G) |
Significance | Pathogenic |
Disease | Prostate cancer Hereditary cancer-predisposing syndrome not provided Familial cancer of breast not specified |
Variation | info |
Gene | CHEK2 |
CLNDBN | Prostate cancer, somatic Hereditary cancer-predisposing syndrome not provided Familial cancer of breast not specified |
Reversed | 1 |
HGVS | NC_000022.10:g.29107974C>A; NC_000022.10:g.29107974C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005947.5, RCV000166320.2, RCV000005948.5, RCV000114762.1, RCV000131201.6, RCV000205850.3, RCV000212434.3, |
[PMID 12533788] Mutations in CHEK2 associated with prostate cancer risk.