rs587781905
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GAGA) | 6 | Breast cancer associated mutation |
(AGAG;AGAG) | 0 | common in clinvar |
Make rs587781905(-;-) |
Make rs587781905(GAGA;GAGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108331445 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587781905 |
dbSNP (classic) | rs587781905 |
ClinGen | rs587781905 |
ebi | rs587781905 |
HLI | rs587781905 |
Exac | rs587781905 |
Gnomad | rs587781905 |
Varsome | rs587781905 |
LitVar | rs587781905 |
Map | rs587781905 |
PheGenI | rs587781905 |
Biobank | rs587781905 |
1000 genomes | rs587781905 |
hgdp | rs587781905 |
ensembl | rs587781905 |
geneview | rs587781905 |
scholar | rs587781905 |
rs587781905 | |
pharmgkb | rs587781905 |
gwascentral | rs587781905 |
openSNP | rs587781905 |
23andMe | rs587781905 |
SNPshot | rs587781905 |
SNPdbe | rs587781905 |
MSV3d | rs587781905 |
GWAS Ctlg | rs587781905 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587781905(-;-) |
Alt | rs587781905(-;-) |
Reference | Rs587781905(AGAG;AGAG) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108202172_108202175delGAGA |
CLNSRC | |
CLNACC | RCV000130244.4, RCV000236845.2, RCV000258095.1, |