rs587781823
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Breast cancer associated mutation |
Make rs587781823(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108284374 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs587781823 |
dbSNP (classic) | rs587781823 |
ClinGen | rs587781823 |
ebi | rs587781823 |
HLI | rs587781823 |
Exac | rs587781823 |
Gnomad | rs587781823 |
Varsome | rs587781823 |
LitVar | rs587781823 |
Map | rs587781823 |
PheGenI | rs587781823 |
Biobank | rs587781823 |
1000 genomes | rs587781823 |
hgdp | rs587781823 |
ensembl | rs587781823 |
geneview | rs587781823 |
scholar | rs587781823 |
rs587781823 | |
pharmgkb | rs587781823 |
gwascentral | rs587781823 |
openSNP | rs587781823 |
23andMe | rs587781823 |
SNPshot | rs587781823 |
SNPdbe | rs587781823 |
MSV3d | rs587781823 |
GWAS Ctlg | rs587781823 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587781823(T;T) |
Alt | rs587781823(T;T) |
Reference | Rs587781823(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108155101dupT |
CLNSRC | |
CLNACC | RCV000130103.3, RCV000231882.1, RCV000342511.1, |