rs587780612
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAAG;AAAG) | 0 | common in clinvar |
Make rs587780612(-;-) |
Make rs587780612(-;AAAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108247086 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs587780612 |
dbSNP (classic) | rs587780612 |
ClinGen | rs587780612 |
ebi | rs587780612 |
HLI | rs587780612 |
Exac | rs587780612 |
Gnomad | rs587780612 |
Varsome | rs587780612 |
LitVar | rs587780612 |
Map | rs587780612 |
PheGenI | rs587780612 |
Biobank | rs587780612 |
1000 genomes | rs587780612 |
hgdp | rs587780612 |
ensembl | rs587780612 |
geneview | rs587780612 |
scholar | rs587780612 |
rs587780612 | |
pharmgkb | rs587780612 |
gwascentral | rs587780612 |
openSNP | rs587780612 |
23andMe | rs587780612 |
SNPshot | rs587780612 |
SNPdbe | rs587780612 |
MSV3d | rs587780612 |
GWAS Ctlg | rs587780612 |
Merged from | Rs587781717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780612(-;-) rs587780612(GAAA;GAAA) |
Alt | rs587780612(-;-) rs587780612(GAAA;GAAA) |
Reference | Rs587780612(AAAG;AAAG) |
Significance | Other |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108117816_108117819delGAAA |
CLNSRC | Ambry Genetics Counsyl |
CLNACC | RCV000122816.7, RCV000129901.5, RCV000236560.2, |