rs587776548
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTATA;TTATA) | 0 | common in clinvar |
Make rs587776548(-;-) |
Make rs587776548(-;TTATA) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 108332856 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587776548 |
dbSNP (classic) | rs587776548 |
ClinGen | rs587776548 |
ebi | rs587776548 |
HLI | rs587776548 |
Exac | rs587776548 |
Gnomad | rs587776548 |
Varsome | rs587776548 |
LitVar | rs587776548 |
Map | rs587776548 |
PheGenI | rs587776548 |
Biobank | rs587776548 |
1000 genomes | rs587776548 |
hgdp | rs587776548 |
ensembl | rs587776548 |
geneview | rs587776548 |
scholar | rs587776548 |
rs587776548 | |
pharmgkb | rs587776548 |
gwascentral | rs587776548 |
openSNP | rs587776548 |
23andMe | rs587776548 |
SNPshot | rs587776548 |
SNPdbe | rs587776548 |
MSV3d | rs587776548 |
GWAS Ctlg | rs587776548 |
Merged from | Rs876658445 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776548(-;-) rs587776548(TATTA;TATTA) |
Alt | rs587776548(-;-) rs587776548(TATTA;TATTA) |
Reference | Rs587776548(TTATA;TTATA) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108203586_108203590delTATTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003171.5, RCV000222650.1, RCV000483952.1, |