rs864622415
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs864622415(-;AGATAAAGAAGAACTT) |
Make rs864622415(AGATAAAGAAGAACTT;AGATAAAGAAGAACTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108253844 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs864622415 |
dbSNP (classic) | rs864622415 |
ClinGen | rs864622415 |
ebi | rs864622415 |
HLI | rs864622415 |
Exac | rs864622415 |
Gnomad | rs864622415 |
Varsome | rs864622415 |
LitVar | rs864622415 |
Map | rs864622415 |
PheGenI | rs864622415 |
Biobank | rs864622415 |
1000 genomes | rs864622415 |
hgdp | rs864622415 |
ensembl | rs864622415 |
geneview | rs864622415 |
scholar | rs864622415 |
rs864622415 | |
pharmgkb | rs864622415 |
gwascentral | rs864622415 |
openSNP | rs864622415 |
23andMe | rs864622415 |
SNPshot | rs864622415 |
SNPdbe | rs864622415 |
MSV3d | rs864622415 |
GWAS Ctlg | rs864622415 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622415(AGATAAAGAAGAACTT;AGATAAAGAAGAACTT) |
Alt | rs864622415(AGATAAAGAAGAACTT;AGATAAAGAAGAACTT) |
Reference | Rs864622415(-;-) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108124556_108124571dup16 |
CLNSRC | |
CLNACC | RCV000206738.1, |