rs786202120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACTA) | 6 | Breast cancer associated mutation |
(I;I) | 0 | common genotype |
(TAAC;TAAC) | 0 | common in clinvar |
Make rs786202120(-;-) |
Make rs786202120(ACTA;ACTA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108335944 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs786202120 |
dbSNP (classic) | rs786202120 |
ClinGen | rs786202120 |
ebi | rs786202120 |
HLI | rs786202120 |
Exac | rs786202120 |
Gnomad | rs786202120 |
Varsome | rs786202120 |
LitVar | rs786202120 |
Map | rs786202120 |
PheGenI | rs786202120 |
Biobank | rs786202120 |
1000 genomes | rs786202120 |
hgdp | rs786202120 |
ensembl | rs786202120 |
geneview | rs786202120 |
scholar | rs786202120 |
rs786202120 | |
pharmgkb | rs786202120 |
gwascentral | rs786202120 |
openSNP | rs786202120 |
23andMe | rs786202120 |
SNPshot | rs786202120 |
SNPdbe | rs786202120 |
MSV3d | rs786202120 |
GWAS Ctlg | rs786202120 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786202120(-;-) |
Alt | rs786202120(-;-) |
Reference | Rs786202120(TAAC;TAAC) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108206671_108206674delACTA |
CLNSRC | |
CLNACC | RCV000164777.1, |