rs1057518965
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057518965(-;-) |
Make rs1057518965(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 108244812 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs1057518965 |
dbSNP (classic) | rs1057518965 |
ClinGen | rs1057518965 |
ebi | rs1057518965 |
HLI | rs1057518965 |
Exac | rs1057518965 |
Gnomad | rs1057518965 |
Varsome | rs1057518965 |
LitVar | rs1057518965 |
Map | rs1057518965 |
PheGenI | rs1057518965 |
Biobank | rs1057518965 |
1000 genomes | rs1057518965 |
hgdp | rs1057518965 |
ensembl | rs1057518965 |
geneview | rs1057518965 |
scholar | rs1057518965 |
rs1057518965 | |
pharmgkb | rs1057518965 |
gwascentral | rs1057518965 |
openSNP | rs1057518965 |
23andMe | rs1057518965 |
SNPshot | rs1057518965 |
SNPdbe | rs1057518965 |
MSV3d | rs1057518965 |
GWAS Ctlg | rs1057518965 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518965(-;-) |
Alt | rs1057518965(-;-) |
Reference | Rs1057518965(A;A) |
Significance | Pathogenic |
Disease | Ataxia Conjunctival telangiectasia Immunodeficiency Oculomotor apraxia |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia Conjunctival telangiectasia Immunodeficiency Oculomotor apraxia |
Reversed | 0 |
HGVS | NC_000011.9:g.108115539delA |
CLNSRC | |
CLNACC | RCV000415022.1, |