rs775644968
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs775644968(C;C) |
Make rs775644968(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108259064 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs775644968 |
dbSNP (classic) | rs775644968 |
ClinGen | rs775644968 |
ebi | rs775644968 |
HLI | rs775644968 |
Exac | rs775644968 |
Gnomad | rs775644968 |
Varsome | rs775644968 |
LitVar | rs775644968 |
Map | rs775644968 |
PheGenI | rs775644968 |
Biobank | rs775644968 |
1000 genomes | rs775644968 |
hgdp | rs775644968 |
ensembl | rs775644968 |
geneview | rs775644968 |
scholar | rs775644968 |
rs775644968 | |
pharmgkb | rs775644968 |
gwascentral | rs775644968 |
openSNP | rs775644968 |
23andMe | rs775644968 |
SNPshot | rs775644968 |
SNPdbe | rs775644968 |
MSV3d | rs775644968 |
GWAS Ctlg | rs775644968 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775644968(C;C) |
Alt | rs775644968(C;C) |
Reference | Rs775644968(T;T) |
Significance | Probable-Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108129791T>C |
CLNSRC | University Hospital of Geneva |
CLNACC | RCV000211457.1, |