rs730881347
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Breast cancer associated mutation |
(C;G) | 6 | Breast cancer associated mutation |
(G;G) | 0 | common in clinvar |
Make rs730881347(G;T) |
Make rs730881347(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108257607 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs730881347 |
dbSNP (classic) | rs730881347 |
ClinGen | rs730881347 |
ebi | rs730881347 |
HLI | rs730881347 |
Exac | rs730881347 |
Gnomad | rs730881347 |
Varsome | rs730881347 |
LitVar | rs730881347 |
Map | rs730881347 |
PheGenI | rs730881347 |
Biobank | rs730881347 |
1000 genomes | rs730881347 |
hgdp | rs730881347 |
ensembl | rs730881347 |
geneview | rs730881347 |
scholar | rs730881347 |
rs730881347 | |
pharmgkb | rs730881347 |
gwascentral | rs730881347 |
openSNP | rs730881347 |
23andMe | rs730881347 |
SNPshot | rs730881347 |
SNPdbe | rs730881347 |
MSV3d | rs730881347 |
GWAS Ctlg | rs730881347 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881347(T;T) |
Alt | rs730881347(T;T) |
Reference | Rs730881347(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ATM |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108128334G>T |
CLNSRC | |
CLNACC | RCV000159692.1, |