rs587776552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTAA;GTAA) | 0 | common in clinvar |
Make rs587776552(-;-) |
Make rs587776552(-;GTAA) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 108270483 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs587776552 |
dbSNP (classic) | rs587776552 |
ClinGen | rs587776552 |
ebi | rs587776552 |
HLI | rs587776552 |
Exac | rs587776552 |
Gnomad | rs587776552 |
Varsome | rs587776552 |
LitVar | rs587776552 |
Map | rs587776552 |
PheGenI | rs587776552 |
Biobank | rs587776552 |
1000 genomes | rs587776552 |
hgdp | rs587776552 |
ensembl | rs587776552 |
geneview | rs587776552 |
scholar | rs587776552 |
rs587776552 | |
pharmgkb | rs587776552 |
gwascentral | rs587776552 |
openSNP | rs587776552 |
23andMe | rs587776552 |
SNPshot | rs587776552 |
SNPdbe | rs587776552 |
MSV3d | rs587776552 |
GWAS Ctlg | rs587776552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776552(-;-) |
Alt | rs587776552(-;-) |
Reference | Rs587776552(GTAA;GTAA) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108141210_108141213delGTAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003184.3, |