rs863224460
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAACTGTG;TAACTGTG) | 0 | common in clinvar |
Make rs863224460(-;-) |
Make rs863224460(-;TAACTGTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108250749 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs863224460 |
dbSNP (classic) | rs863224460 |
ClinGen | rs863224460 |
ebi | rs863224460 |
HLI | rs863224460 |
Exac | rs863224460 |
Gnomad | rs863224460 |
Varsome | rs863224460 |
LitVar | rs863224460 |
Map | rs863224460 |
PheGenI | rs863224460 |
Biobank | rs863224460 |
1000 genomes | rs863224460 |
hgdp | rs863224460 |
ensembl | rs863224460 |
geneview | rs863224460 |
scholar | rs863224460 |
rs863224460 | |
pharmgkb | rs863224460 |
gwascentral | rs863224460 |
openSNP | rs863224460 |
23andMe | rs863224460 |
SNPshot | rs863224460 |
SNPdbe | rs863224460 |
MSV3d | rs863224460 |
GWAS Ctlg | rs863224460 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224460(-;-) |
Alt | rs863224460(-;-) |
Reference | Rs863224460(TAACTGTG;TAACTGTG) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108121476_108121483delTAACTGTG |
CLNSRC | |
CLNACC | RCV000199901.1, |