rs878853497
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs878853497(-;-) |
Make rs878853497(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108229281 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs878853497 |
dbSNP (classic) | rs878853497 |
ClinGen | rs878853497 |
ebi | rs878853497 |
HLI | rs878853497 |
Exac | rs878853497 |
Gnomad | rs878853497 |
Varsome | rs878853497 |
LitVar | rs878853497 |
Map | rs878853497 |
PheGenI | rs878853497 |
Biobank | rs878853497 |
1000 genomes | rs878853497 |
hgdp | rs878853497 |
ensembl | rs878853497 |
geneview | rs878853497 |
scholar | rs878853497 |
rs878853497 | |
pharmgkb | rs878853497 |
gwascentral | rs878853497 |
openSNP | rs878853497 |
23andMe | rs878853497 |
SNPshot | rs878853497 |
SNPdbe | rs878853497 |
MSV3d | rs878853497 |
GWAS Ctlg | rs878853497 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853497(-;-) |
Alt | rs878853497(-;-) |
Reference | Rs878853497(A;A) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108100008delA |
CLNSRC | |
CLNACC | RCV000225848.1, |