rs587781994
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587781994(C;T) |
Make rs587781994(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108333909 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs587781994 |
dbSNP (classic) | rs587781994 |
ClinGen | rs587781994 |
ebi | rs587781994 |
HLI | rs587781994 |
Exac | rs587781994 |
Gnomad | rs587781994 |
Varsome | rs587781994 |
LitVar | rs587781994 |
Map | rs587781994 |
PheGenI | rs587781994 |
Biobank | rs587781994 |
1000 genomes | rs587781994 |
hgdp | rs587781994 |
ensembl | rs587781994 |
geneview | rs587781994 |
scholar | rs587781994 |
rs587781994 | |
pharmgkb | rs587781994 |
gwascentral | rs587781994 |
openSNP | rs587781994 |
23andMe | rs587781994 |
SNPshot | rs587781994 |
SNPdbe | rs587781994 |
MSV3d | rs587781994 |
GWAS Ctlg | rs587781994 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781994(A;A) rs587781994(T;T) |
Alt | rs587781994(A;A) rs587781994(T;T) |
Reference | Rs587781994(C;C) |
Significance | Pathogenic |
Disease | not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108204636C>A; NC_000011.9:g.108204636C>T |
CLNSRC | |
CLNACC | RCV000486497.1, RCV000130403.2, RCV000411562.1, |