rs863224461
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863224461(-;CTCA) |
Make rs863224461(CTCA;CTCA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108325487 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs863224461 |
dbSNP (classic) | rs863224461 |
ClinGen | rs863224461 |
ebi | rs863224461 |
HLI | rs863224461 |
Exac | rs863224461 |
Gnomad | rs863224461 |
Varsome | rs863224461 |
LitVar | rs863224461 |
Map | rs863224461 |
PheGenI | rs863224461 |
Biobank | rs863224461 |
1000 genomes | rs863224461 |
hgdp | rs863224461 |
ensembl | rs863224461 |
geneview | rs863224461 |
scholar | rs863224461 |
rs863224461 | |
pharmgkb | rs863224461 |
gwascentral | rs863224461 |
openSNP | rs863224461 |
23andMe | rs863224461 |
SNPshot | rs863224461 |
SNPdbe | rs863224461 |
MSV3d | rs863224461 |
GWAS Ctlg | rs863224461 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224461(CTCA;CTCA) |
Alt | rs863224461(CTCA;CTCA) |
Reference | Rs863224461(-;-) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108196214_108196215insCTCA |
CLNSRC | |
CLNACC | RCV000198667.1, |