rs730881301
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTC;TTC) | 0 | common in clinvar |
Make rs730881301(GCCAA;GCCAA) |
Make rs730881301(GCCAA;TTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108271122 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs730881301 |
dbSNP (classic) | rs730881301 |
ClinGen | rs730881301 |
ebi | rs730881301 |
HLI | rs730881301 |
Exac | rs730881301 |
Gnomad | rs730881301 |
Varsome | rs730881301 |
LitVar | rs730881301 |
Map | rs730881301 |
PheGenI | rs730881301 |
Biobank | rs730881301 |
1000 genomes | rs730881301 |
hgdp | rs730881301 |
ensembl | rs730881301 |
geneview | rs730881301 |
scholar | rs730881301 |
rs730881301 | |
pharmgkb | rs730881301 |
gwascentral | rs730881301 |
openSNP | rs730881301 |
23andMe | rs730881301 |
SNPshot | rs730881301 |
SNPdbe | rs730881301 |
MSV3d | rs730881301 |
GWAS Ctlg | rs730881301 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881301(GCCAA;GCCAA) |
Alt | rs730881301(GCCAA;GCCAA) |
Reference | Rs730881301(TTC;TTC) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108141849_108141851delTTCinsGCCAA |
CLNSRC | |
CLNACC | RCV000159630.1, |