rs227092
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs227092(G;T) |
Make rs227092(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 108366056 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs227092 |
dbSNP (classic) | rs227092 |
ClinGen | rs227092 |
ebi | rs227092 |
HLI | rs227092 |
Exac | rs227092 |
Gnomad | rs227092 |
Varsome | rs227092 |
LitVar | rs227092 |
Map | rs227092 |
PheGenI | rs227092 |
Biobank | rs227092 |
1000 genomes | rs227092 |
hgdp | rs227092 |
ensembl | rs227092 |
geneview | rs227092 |
scholar | rs227092 |
rs227092 | |
pharmgkb | rs227092 |
gwascentral | rs227092 |
openSNP | rs227092 |
23andMe | rs227092 |
SNPshot | rs227092 |
SNPdbe | rs227092 |
MSV3d | rs227092 |
GWAS Ctlg | rs227092 |
GMAF | 0.4913 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
[PMID 19193393] reduced cytokinesis-block micronucleus (CBMN) frequency among workers exposed to polycyclic aromatic hydrocarbons
[PMID 22229509] Association between Ataxia Telangiectasia Mutated Gene Polymorphisms and Childhood Leukemia in Taiwan
[PMID 24023351] Effects of Ataxia Telangiectasia Mutated (ATM) Genotypes and Smoking Habits on Lung Cancer Risk in Taiwan
[PMID 25759145] ATM Gene Single-Nucleotide Polymorphisms Predict Regimen-Related Gastrointestinal Toxicity in Patients Allografted after Reduced Conditionings
ClinVar | |
---|---|
Risk | rs227092(A;A) rs227092(T;T) |
Alt | rs227092(A;A) rs227092(T;T) |
Reference | Rs227092(G;G) |
Significance | Non-pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108236783G>T |
CLNSRC | |
CLNACC | RCV000291267.1, |