rs774281788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs774281788(A;A) |
Make rs774281788(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108330369 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs774281788 |
dbSNP (classic) | rs774281788 |
ClinGen | rs774281788 |
ebi | rs774281788 |
HLI | rs774281788 |
Exac | rs774281788 |
Gnomad | rs774281788 |
Varsome | rs774281788 |
LitVar | rs774281788 |
Map | rs774281788 |
PheGenI | rs774281788 |
Biobank | rs774281788 |
1000 genomes | rs774281788 |
hgdp | rs774281788 |
ensembl | rs774281788 |
geneview | rs774281788 |
scholar | rs774281788 |
rs774281788 | |
pharmgkb | rs774281788 |
gwascentral | rs774281788 |
openSNP | rs774281788 |
23andMe | rs774281788 |
SNPshot | rs774281788 |
SNPdbe | rs774281788 |
MSV3d | rs774281788 |
GWAS Ctlg | rs774281788 |
Max Magnitude | 0 |
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]
ClinVar | |
---|---|
Risk | rs774281788(A;A) |
Alt | rs774281788(A;A) |
Reference | Rs774281788(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108201096G>A |
CLNSRC | |
CLNACC | RCV000166722.2, RCV000255700.1, |