rs587776547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTAGAATT;TCTAGAATT) | 0 | common in clinvar |
Make rs587776547(-;-) |
Make rs587776547(-;TCTAGAATT) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 108331885 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587776547 |
dbSNP (classic) | rs587776547 |
ClinGen | rs587776547 |
ebi | rs587776547 |
HLI | rs587776547 |
Exac | rs587776547 |
Gnomad | rs587776547 |
Varsome | rs587776547 |
LitVar | rs587776547 |
Map | rs587776547 |
PheGenI | rs587776547 |
Biobank | rs587776547 |
1000 genomes | rs587776547 |
hgdp | rs587776547 |
ensembl | rs587776547 |
geneview | rs587776547 |
scholar | rs587776547 |
rs587776547 | |
pharmgkb | rs587776547 |
gwascentral | rs587776547 |
openSNP | rs587776547 |
23andMe | rs587776547 |
SNPshot | rs587776547 |
SNPdbe | rs587776547 |
MSV3d | rs587776547 |
GWAS Ctlg | rs587776547 |
Merged from | Rs587782444 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776547(-;-) rs587776547(TAGAATTTC;TAGAATTTC) |
Alt | rs587776547(-;-) rs587776547(TAGAATTTC;TAGAATTTC) |
Reference | Rs587776547(TCTAGAATT;TCTAGAATT) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided Neoplasm of breast |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia, complementation group E T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided Neoplasm of breast |
Reversed | 0 |
HGVS | NC_000011.9:g.108202614_108202622delTAGAATTTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003155.3, RCV000003163.5, RCV000185637.4, RCV000206671.4, RCV000212075.3, RCV000417362.1, |