rs147557621
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Breast cancer associated mutation |
Make rs147557621(A;A) |
Make rs147557621(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108279510 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs147557621 |
dbSNP (classic) | rs147557621 |
ClinGen | rs147557621 |
ebi | rs147557621 |
HLI | rs147557621 |
Exac | rs147557621 |
Gnomad | rs147557621 |
Varsome | rs147557621 |
LitVar | rs147557621 |
Map | rs147557621 |
PheGenI | rs147557621 |
Biobank | rs147557621 |
1000 genomes | rs147557621 |
hgdp | rs147557621 |
ensembl | rs147557621 |
geneview | rs147557621 |
scholar | rs147557621 |
rs147557621 | |
pharmgkb | rs147557621 |
gwascentral | rs147557621 |
openSNP | rs147557621 |
23andMe | rs147557621 |
SNPshot | rs147557621 |
SNPdbe | rs147557621 |
MSV3d | rs147557621 |
GWAS Ctlg | rs147557621 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs147557621(A;A) rs147557621(T;T) |
Alt | rs147557621(A;A) rs147557621(T;T) |
Reference | Rs147557621(G;G) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108150237G>T |
CLNSRC | |
CLNACC | RCV000159714.1, RCV000213174.1, |