rs864622252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs864622252(-;-) |
Make rs864622252(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 51078320 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs864622252 |
dbSNP (classic) | rs864622252 |
ClinGen | rs864622252 |
ebi | rs864622252 |
HLI | rs864622252 |
Exac | rs864622252 |
Gnomad | rs864622252 |
Varsome | rs864622252 |
LitVar | rs864622252 |
Map | rs864622252 |
PheGenI | rs864622252 |
Biobank | rs864622252 |
1000 genomes | rs864622252 |
hgdp | rs864622252 |
ensembl | rs864622252 |
geneview | rs864622252 |
scholar | rs864622252 |
rs864622252 | |
pharmgkb | rs864622252 |
gwascentral | rs864622252 |
openSNP | rs864622252 |
23andMe | rs864622252 |
SNPshot | rs864622252 |
SNPdbe | rs864622252 |
MSV3d | rs864622252 |
GWAS Ctlg | rs864622252 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622252(-;-) |
Alt | rs864622252(-;-) |
Reference | Rs864622252(T;T) |
Significance | Probable-Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48604690delT |
CLNSRC | |
CLNACC | RCV000205617.1, |