rs864622149
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Breast cancer associated mutation |
(C;G) | 6 | Breast cancer associated mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Breast cancer associated mutation |
Make rs864622149(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28710005 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622149 |
dbSNP (classic) | rs864622149 |
ClinGen | rs864622149 |
ebi | rs864622149 |
HLI | rs864622149 |
Exac | rs864622149 |
Gnomad | rs864622149 |
Varsome | rs864622149 |
LitVar | rs864622149 |
Map | rs864622149 |
PheGenI | rs864622149 |
Biobank | rs864622149 |
1000 genomes | rs864622149 |
hgdp | rs864622149 |
ensembl | rs864622149 |
geneview | rs864622149 |
scholar | rs864622149 |
rs864622149 | |
pharmgkb | rs864622149 |
gwascentral | rs864622149 |
openSNP | rs864622149 |
23andMe | rs864622149 |
SNPshot | rs864622149 |
SNPdbe | rs864622149 |
MSV3d | rs864622149 |
GWAS Ctlg | rs864622149 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs864622149(C;C) |
Alt | rs864622149(C;C) |
Reference | Rs864622149(G;G) |
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 | 1 |
HGVS | NC_000022.10:g.29105993C>G; NC_000022.10:g.29105993C>T |
CLNSRC | |
CLNACC | RCV000206880.2, RCV000218773.1, RCV000255179.1, RCV000492671.1, |