rs200196781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200196781(A;A) |
Make rs200196781(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 108284474 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs200196781 |
dbSNP (classic) | rs200196781 |
ClinGen | rs200196781 |
ebi | rs200196781 |
HLI | rs200196781 |
Exac | rs200196781 |
Gnomad | rs200196781 |
Varsome | rs200196781 |
LitVar | rs200196781 |
Map | rs200196781 |
PheGenI | rs200196781 |
Biobank | rs200196781 |
1000 genomes | rs200196781 |
hgdp | rs200196781 |
ensembl | rs200196781 |
geneview | rs200196781 |
scholar | rs200196781 |
rs200196781 | |
pharmgkb | rs200196781 |
gwascentral | rs200196781 |
openSNP | rs200196781 |
23andMe | rs200196781 |
SNPshot | rs200196781 |
SNPdbe | rs200196781 |
MSV3d | rs200196781 |
GWAS Ctlg | rs200196781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200196781(A;A) rs200196781(T;T) |
Alt | rs200196781(A;A) rs200196781(T;T) |
Reference | Rs200196781(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108155201G>A; NC_000011.9:g.108155201G>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000129961.2, RCV000228950.2, RCV000438634.1, RCV000409640.1, |