rs564652222
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Breast cancer associated mutation |
Make rs564652222(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108325416 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs564652222 |
dbSNP (classic) | rs564652222 |
ClinGen | rs564652222 |
ebi | rs564652222 |
HLI | rs564652222 |
Exac | rs564652222 |
Gnomad | rs564652222 |
Varsome | rs564652222 |
LitVar | rs564652222 |
Map | rs564652222 |
PheGenI | rs564652222 |
Biobank | rs564652222 |
1000 genomes | rs564652222 |
hgdp | rs564652222 |
ensembl | rs564652222 |
geneview | rs564652222 |
scholar | rs564652222 |
rs564652222 | |
pharmgkb | rs564652222 |
gwascentral | rs564652222 |
openSNP | rs564652222 |
23andMe | rs564652222 |
SNPshot | rs564652222 |
SNPdbe | rs564652222 |
MSV3d | rs564652222 |
GWAS Ctlg | rs564652222 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs564652222(T;T) |
Alt | rs564652222(T;T) |
Reference | Rs564652222(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108196143C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000159749.5, RCV000196419.3, RCV000212048.3, |