rs864622416
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs864622416(-;-) |
Make rs864622416(-;GT) |
Make rs864622416(GT;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108327679 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs864622416 |
dbSNP (classic) | rs864622416 |
ClinGen | rs864622416 |
ebi | rs864622416 |
HLI | rs864622416 |
Exac | rs864622416 |
Gnomad | rs864622416 |
Varsome | rs864622416 |
LitVar | rs864622416 |
Map | rs864622416 |
PheGenI | rs864622416 |
Biobank | rs864622416 |
1000 genomes | rs864622416 |
hgdp | rs864622416 |
ensembl | rs864622416 |
geneview | rs864622416 |
scholar | rs864622416 |
rs864622416 | |
pharmgkb | rs864622416 |
gwascentral | rs864622416 |
openSNP | rs864622416 |
23andMe | rs864622416 |
SNPshot | rs864622416 |
SNPdbe | rs864622416 |
MSV3d | rs864622416 |
GWAS Ctlg | rs864622416 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622416(-;-) |
Alt | rs864622416(-;-) |
Reference | Rs864622416(TG;TG) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108198406_108198407delGT |
CLNSRC | |
CLNACC | RCV000205757.1, RCV000484538.1, |