rs587782554
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(C;C) | 0 | common in clinvar |
Make rs587782554(-;CT) |
Make rs587782554(CT;CT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108320009 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587782554 |
dbSNP (classic) | rs587782554 |
ClinGen | rs587782554 |
ebi | rs587782554 |
HLI | rs587782554 |
Exac | rs587782554 |
Gnomad | rs587782554 |
Varsome | rs587782554 |
LitVar | rs587782554 |
Map | rs587782554 |
PheGenI | rs587782554 |
Biobank | rs587782554 |
1000 genomes | rs587782554 |
hgdp | rs587782554 |
ensembl | rs587782554 |
geneview | rs587782554 |
scholar | rs587782554 |
rs587782554 | |
pharmgkb | rs587782554 |
gwascentral | rs587782554 |
openSNP | rs587782554 |
23andMe | rs587782554 |
SNPshot | rs587782554 |
SNPdbe | rs587782554 |
MSV3d | rs587782554 |
GWAS Ctlg | rs587782554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782554(CT;CT) rs587782554(TT;TT) |
Alt | rs587782554(CT;CT) rs587782554(TT;TT) |
Reference | Rs587782554(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108190736_108190737insCT |
CLNSRC | |
CLNACC | RCV000131770.2, |