rs864622326
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(I;I) | 0 | common genotype |
(TTAGTTTT;TTAGTTTT) | 0 | common in clinvar |
(TTTTAGTT;TTTTAGTT) | 0 | common in clinvar |
Make rs864622326(-;-) |
Make rs864622326(-;TTAGTTTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108325387 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs864622326 |
dbSNP (classic) | rs864622326 |
ClinGen | rs864622326 |
ebi | rs864622326 |
HLI | rs864622326 |
Exac | rs864622326 |
Gnomad | rs864622326 |
Varsome | rs864622326 |
LitVar | rs864622326 |
Map | rs864622326 |
PheGenI | rs864622326 |
Biobank | rs864622326 |
1000 genomes | rs864622326 |
hgdp | rs864622326 |
ensembl | rs864622326 |
geneview | rs864622326 |
scholar | rs864622326 |
rs864622326 | |
pharmgkb | rs864622326 |
gwascentral | rs864622326 |
openSNP | rs864622326 |
23andMe | rs864622326 |
SNPshot | rs864622326 |
SNPdbe | rs864622326 |
MSV3d | rs864622326 |
GWAS Ctlg | rs864622326 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622326(-;-) Rs864622326(TTTTAGTT;TTTTAGTT) |
Alt | rs864622326(-;-) Rs864622326(TTTTAGTT;TTTTAGTT) |
Reference | Rs864622326(TTAGTTTT;TTAGTTTT) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108196114_108196121delTTAGTTTT |
CLNSRC | |
CLNACC | RCV000206192.1, RCV000218379.1, |