rs797045114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045114(-;-) |
Make rs797045114(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108288978 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs797045114 |
dbSNP (classic) | rs797045114 |
ClinGen | rs797045114 |
ebi | rs797045114 |
HLI | rs797045114 |
Exac | rs797045114 |
Gnomad | rs797045114 |
Varsome | rs797045114 |
LitVar | rs797045114 |
Map | rs797045114 |
PheGenI | rs797045114 |
Biobank | rs797045114 |
1000 genomes | rs797045114 |
hgdp | rs797045114 |
ensembl | rs797045114 |
geneview | rs797045114 |
scholar | rs797045114 |
rs797045114 | |
pharmgkb | rs797045114 |
gwascentral | rs797045114 |
openSNP | rs797045114 |
23andMe | rs797045114 |
SNPshot | rs797045114 |
SNPdbe | rs797045114 |
MSV3d | rs797045114 |
GWAS Ctlg | rs797045114 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045114(-;-) |
Alt | rs797045114(-;-) |
Reference | Rs797045114(G;G) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108159705delG |
CLNSRC | |
CLNACC | RCV000190639.1, RCV000213987.1, |