rs748840480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Breast cancer associated mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Breast cancer associated mutation |
Make rs748840480(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108245027 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs748840480 |
dbSNP (classic) | rs748840480 |
ClinGen | rs748840480 |
ebi | rs748840480 |
HLI | rs748840480 |
Exac | rs748840480 |
Gnomad | rs748840480 |
Varsome | rs748840480 |
LitVar | rs748840480 |
Map | rs748840480 |
PheGenI | rs748840480 |
Biobank | rs748840480 |
1000 genomes | rs748840480 |
hgdp | rs748840480 |
ensembl | rs748840480 |
geneview | rs748840480 |
scholar | rs748840480 |
rs748840480 | |
pharmgkb | rs748840480 |
gwascentral | rs748840480 |
openSNP | rs748840480 |
23andMe | rs748840480 |
SNPshot | rs748840480 |
SNPdbe | rs748840480 |
MSV3d | rs748840480 |
GWAS Ctlg | rs748840480 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs748840480(A;A) rs748840480(C;C) rs748840480(T;T) |
Alt | rs748840480(A;A) rs748840480(C;C) rs748840480(T;T) |
Reference | Rs748840480(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108115754G>A; NC_000011.9:g.108115754G>C; NC_000011.9:g.108115754G>T |
CLNSRC | |
CLNACC | RCV000166407.3, RCV000205735.2, RCV000439479.1, RCV000216527.1, |