rs1060501587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAAT;CAAT) | 0 | common in clinvar |
Make rs1060501587(-;-) |
Make rs1060501587(-;ATCA) |
Make rs1060501587(ATCA;ATCA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 108272810 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs1060501587 |
dbSNP (classic) | rs1060501587 |
ClinGen | rs1060501587 |
ebi | rs1060501587 |
HLI | rs1060501587 |
Exac | rs1060501587 |
Gnomad | rs1060501587 |
Varsome | rs1060501587 |
LitVar | rs1060501587 |
Map | rs1060501587 |
PheGenI | rs1060501587 |
Biobank | rs1060501587 |
1000 genomes | rs1060501587 |
hgdp | rs1060501587 |
ensembl | rs1060501587 |
geneview | rs1060501587 |
scholar | rs1060501587 |
rs1060501587 | |
pharmgkb | rs1060501587 |
gwascentral | rs1060501587 |
openSNP | rs1060501587 |
23andMe | rs1060501587 |
SNPshot | rs1060501587 |
SNPdbe | rs1060501587 |
MSV3d | rs1060501587 |
GWAS Ctlg | rs1060501587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501587(-;-) |
Alt | rs1060501587(-;-) |
Reference | Rs1060501587(CAAT;CAAT) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108143537_108143540delATCA |
CLNSRC | |
CLNACC | RCV000457961.1, |