rs531398630
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs531398630(A;A) |
Make rs531398630(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28695858 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs531398630 |
dbSNP (classic) | rs531398630 |
ClinGen | rs531398630 |
ebi | rs531398630 |
HLI | rs531398630 |
Exac | rs531398630 |
Gnomad | rs531398630 |
Varsome | rs531398630 |
LitVar | rs531398630 |
Map | rs531398630 |
PheGenI | rs531398630 |
Biobank | rs531398630 |
1000 genomes | rs531398630 |
hgdp | rs531398630 |
ensembl | rs531398630 |
geneview | rs531398630 |
scholar | rs531398630 |
rs531398630 | |
pharmgkb | rs531398630 |
gwascentral | rs531398630 |
openSNP | rs531398630 |
23andMe | rs531398630 |
SNPshot | rs531398630 |
SNPdbe | rs531398630 |
MSV3d | rs531398630 |
GWAS Ctlg | rs531398630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs531398630(A;A) |
Alt | rs531398630(A;A) |
Reference | Rs531398630(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Reversed | 0 |
HGVS | NC_000022.10:g.29091846G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000115982.7, RCV000197709.3, RCV000212449.2, |