rs758588019
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs758588019(A;T) |
Make rs758588019(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 108335056 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs758588019 |
dbSNP (classic) | rs758588019 |
ClinGen | rs758588019 |
ebi | rs758588019 |
HLI | rs758588019 |
Exac | rs758588019 |
Gnomad | rs758588019 |
Varsome | rs758588019 |
LitVar | rs758588019 |
Map | rs758588019 |
PheGenI | rs758588019 |
Biobank | rs758588019 |
1000 genomes | rs758588019 |
hgdp | rs758588019 |
ensembl | rs758588019 |
geneview | rs758588019 |
scholar | rs758588019 |
rs758588019 | |
pharmgkb | rs758588019 |
gwascentral | rs758588019 |
openSNP | rs758588019 |
23andMe | rs758588019 |
SNPshot | rs758588019 |
SNPdbe | rs758588019 |
MSV3d | rs758588019 |
GWAS Ctlg | rs758588019 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758588019(T;T) |
Alt | rs758588019(T;T) |
Reference | Rs758588019(A;A) |
Significance | Probable-Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108205783A>T |
CLNSRC | |
CLNACC | RCV000411242.1, |