rs730881297
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TA) | 6 | Breast cancer associated mutation |
(AT;AT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs730881297(-;-) |
Make rs730881297(TA;TA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108244005 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs730881297 |
dbSNP (classic) | rs730881297 |
ClinGen | rs730881297 |
ebi | rs730881297 |
HLI | rs730881297 |
Exac | rs730881297 |
Gnomad | rs730881297 |
Varsome | rs730881297 |
LitVar | rs730881297 |
Map | rs730881297 |
PheGenI | rs730881297 |
Biobank | rs730881297 |
1000 genomes | rs730881297 |
hgdp | rs730881297 |
ensembl | rs730881297 |
geneview | rs730881297 |
scholar | rs730881297 |
rs730881297 | |
pharmgkb | rs730881297 |
gwascentral | rs730881297 |
openSNP | rs730881297 |
23andMe | rs730881297 |
SNPshot | rs730881297 |
SNPdbe | rs730881297 |
MSV3d | rs730881297 |
GWAS Ctlg | rs730881297 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881297(-;-) |
Alt | rs730881297(-;-) |
Reference | Rs730881297(AT;AT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108114732_108114733delTA |
CLNSRC | |
CLNACC | RCV000159626.1, RCV000471869.1, |