rs786204125
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GCTACTGCACAAGCTGCAGCAGCTGCCC) | 5.1 | Juvenile polyposis syndrome |
Make rs786204125(GCTACTGCACAAGCTGCAGCAGCTGCCC;GCTACTGCACAAGCTGCAGCAGCTGCCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 51076682 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs786204125 |
dbSNP (classic) | rs786204125 |
ClinGen | rs786204125 |
ebi | rs786204125 |
HLI | rs786204125 |
Exac | rs786204125 |
Gnomad | rs786204125 |
Varsome | rs786204125 |
LitVar | rs786204125 |
Map | rs786204125 |
PheGenI | rs786204125 |
Biobank | rs786204125 |
1000 genomes | rs786204125 |
hgdp | rs786204125 |
ensembl | rs786204125 |
geneview | rs786204125 |
scholar | rs786204125 |
rs786204125 | |
pharmgkb | rs786204125 |
gwascentral | rs786204125 |
openSNP | rs786204125 |
23andMe | rs786204125 |
SNPshot | rs786204125 |
SNPdbe | rs786204125 |
MSV3d | rs786204125 |
GWAS Ctlg | rs786204125 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs786204125(GCTACTGCACAAGCTGCAGCAGCTGCCC;GCTACTGCACAAGCTGCAGCAGCTGCCC) |
Alt | rs786204125(GCTACTGCACAAGCTGCAGCAGCTGCCC;GCTACTGCACAAGCTGCAGCAGCTGCCC) |
Reference | Rs786204125(-;-) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48603052_48603053insGCTACTGCACAAGCTGCAGCAGCTGCCC |
CLNSRC | |
CLNACC | RCV000168084.1, |