rs747727055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Breast cancer associated mutation |
Make rs747727055(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108245000 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs747727055 |
dbSNP (classic) | rs747727055 |
ClinGen | rs747727055 |
ebi | rs747727055 |
HLI | rs747727055 |
Exac | rs747727055 |
Gnomad | rs747727055 |
Varsome | rs747727055 |
LitVar | rs747727055 |
Map | rs747727055 |
PheGenI | rs747727055 |
Biobank | rs747727055 |
1000 genomes | rs747727055 |
hgdp | rs747727055 |
ensembl | rs747727055 |
geneview | rs747727055 |
scholar | rs747727055 |
rs747727055 | |
pharmgkb | rs747727055 |
gwascentral | rs747727055 |
openSNP | rs747727055 |
23andMe | rs747727055 |
SNPshot | rs747727055 |
SNPdbe | rs747727055 |
MSV3d | rs747727055 |
GWAS Ctlg | rs747727055 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs747727055(T;T) |
Alt | rs747727055(T;T) |
Reference | Rs747727055(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified |
Variation | info |
Gene | ATM |
CLNDBN | Hereditary cancer-predisposing syndrome not specified |
Reversed | 0 |
HGVS | NC_000011.9:g.108115727C>T |
CLNSRC | |
CLNACC | RCV000220769.2, RCV000255507.2, |