rs863224507
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224507(A;A) |
Make rs863224507(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 51067021 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs863224507 |
dbSNP (classic) | rs863224507 |
ClinGen | rs863224507 |
ebi | rs863224507 |
HLI | rs863224507 |
Exac | rs863224507 |
Gnomad | rs863224507 |
Varsome | rs863224507 |
LitVar | rs863224507 |
Map | rs863224507 |
PheGenI | rs863224507 |
Biobank | rs863224507 |
1000 genomes | rs863224507 |
hgdp | rs863224507 |
ensembl | rs863224507 |
geneview | rs863224507 |
scholar | rs863224507 |
rs863224507 | |
pharmgkb | rs863224507 |
gwascentral | rs863224507 |
openSNP | rs863224507 |
23andMe | rs863224507 |
SNPshot | rs863224507 |
SNPdbe | rs863224507 |
MSV3d | rs863224507 |
GWAS Ctlg | rs863224507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224507(A;A) |
Alt | rs863224507(A;A) |
Reference | Rs863224507(T;T) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48593391T>A |
CLNSRC | |
CLNACC | RCV000200787.1, |