rs786203054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6 | Breast cancer associated mutation |
(T;T) | 0 | common in clinvar |
Make rs786203054(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108271074 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs786203054 |
dbSNP (classic) | rs786203054 |
ClinGen | rs786203054 |
ebi | rs786203054 |
HLI | rs786203054 |
Exac | rs786203054 |
Gnomad | rs786203054 |
Varsome | rs786203054 |
LitVar | rs786203054 |
Map | rs786203054 |
PheGenI | rs786203054 |
Biobank | rs786203054 |
1000 genomes | rs786203054 |
hgdp | rs786203054 |
ensembl | rs786203054 |
geneview | rs786203054 |
scholar | rs786203054 |
rs786203054 | |
pharmgkb | rs786203054 |
gwascentral | rs786203054 |
openSNP | rs786203054 |
23andMe | rs786203054 |
SNPshot | rs786203054 |
SNPdbe | rs786203054 |
MSV3d | rs786203054 |
GWAS Ctlg | rs786203054 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786203054(G;G) |
Alt | rs786203054(G;G) |
Reference | Rs786203054(T;T) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108141801T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000166191.2, RCV000255989.1, |