rs80338964
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338964(C;T) |
Make rs80338964(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 51067041 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs80338964 |
dbSNP (classic) | rs80338964 |
ClinGen | rs80338964 |
ebi | rs80338964 |
HLI | rs80338964 |
Exac | rs80338964 |
Gnomad | rs80338964 |
Varsome | rs80338964 |
LitVar | rs80338964 |
Map | rs80338964 |
PheGenI | rs80338964 |
Biobank | rs80338964 |
1000 genomes | rs80338964 |
hgdp | rs80338964 |
ensembl | rs80338964 |
geneview | rs80338964 |
scholar | rs80338964 |
rs80338964 | |
pharmgkb | rs80338964 |
gwascentral | rs80338964 |
openSNP | rs80338964 |
23andMe | rs80338964 |
SNPshot | rs80338964 |
SNPdbe | rs80338964 |
MSV3d | rs80338964 |
GWAS Ctlg | rs80338964 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338964(T;T) |
Alt | rs80338964(T;T) |
Reference | Rs80338964(C;C) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48593411C>T |
CLNSRC | ARUP SMAD4 |
CLNACC | RCV000021723.1, |
[PMID 15235019] The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.