rs3819122
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs3819122(G;G) |
Make rs3819122(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 51084461 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs3819122 |
dbSNP (classic) | rs3819122 |
ClinGen | rs3819122 |
ebi | rs3819122 |
HLI | rs3819122 |
Exac | rs3819122 |
Gnomad | rs3819122 |
Varsome | rs3819122 |
LitVar | rs3819122 |
Map | rs3819122 |
PheGenI | rs3819122 |
Biobank | rs3819122 |
1000 genomes | rs3819122 |
hgdp | rs3819122 |
ensembl | rs3819122 |
geneview | rs3819122 |
scholar | rs3819122 |
rs3819122 | |
pharmgkb | rs3819122 |
gwascentral | rs3819122 |
openSNP | rs3819122 |
23andMe | rs3819122 |
SNPshot | rs3819122 |
SNPdbe | rs3819122 |
MSV3d | rs3819122 |
GWAS Ctlg | rs3819122 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
[PMID 26920143] Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.
ClinVar | |
---|---|
Risk | rs3819122(G;G) |
Alt | rs3819122(G;G) |
Reference | Rs3819122(T;T) |
Significance | Non-pathogenic |
Disease | Osler hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile Polyposis |
Variation | info |
Gene | SMAD4 |
CLNDBN | Osler hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile Polyposis |
Reversed | 1 |
HGVS | NC_000018.9:g.48610831A>C |
CLNSRC | |
CLNACC | RCV000277107.1, RCV000332185.1, RCV000362126.1, |