rs587780640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ATCTGGTGACTATACA) | 6 | Breast cancer associated mutation |
(AATCTGGTGACTATAC;AATCTGGTGACTATAC) | 0 | common in clinvar |
Make rs587780640(-;-) |
Make rs587780640(-;AATCTGGTGACTATAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108334993 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587780640 |
dbSNP (classic) | rs587780640 |
ClinGen | rs587780640 |
ebi | rs587780640 |
HLI | rs587780640 |
Exac | rs587780640 |
Gnomad | rs587780640 |
Varsome | rs587780640 |
LitVar | rs587780640 |
Map | rs587780640 |
PheGenI | rs587780640 |
Biobank | rs587780640 |
1000 genomes | rs587780640 |
hgdp | rs587780640 |
ensembl | rs587780640 |
geneview | rs587780640 |
scholar | rs587780640 |
rs587780640 | |
pharmgkb | rs587780640 |
gwascentral | rs587780640 |
openSNP | rs587780640 |
23andMe | rs587780640 |
SNPshot | rs587780640 |
SNPdbe | rs587780640 |
MSV3d | rs587780640 |
GWAS Ctlg | rs587780640 |
Merged from | Rs786202463 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587780640(-;-) rs587780640(ATCTGGTGACTATACA;ATCTGGTGACTATACA) |
Alt | rs587780640(-;-) rs587780640(ATCTGGTGACTATACA;ATCTGGTGACTATACA) |
Reference | Rs587780640(AATCTGGTGACTATAC;AATCTGGTGACTATAC) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108205721_108205736del16 |
CLNSRC | |
CLNACC | RCV000122885.2, RCV000165284.1, |