rs377767324
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs377767324(-;AT) |
Make rs377767324(AT;AT) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 51048809 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs377767324 |
dbSNP (classic) | rs377767324 |
ClinGen | rs377767324 |
ebi | rs377767324 |
HLI | rs377767324 |
Exac | rs377767324 |
Gnomad | rs377767324 |
Varsome | rs377767324 |
LitVar | rs377767324 |
Map | rs377767324 |
PheGenI | rs377767324 |
Biobank | rs377767324 |
1000 genomes | rs377767324 |
hgdp | rs377767324 |
ensembl | rs377767324 |
geneview | rs377767324 |
scholar | rs377767324 |
rs377767324 | |
pharmgkb | rs377767324 |
gwascentral | rs377767324 |
openSNP | rs377767324 |
23andMe | rs377767324 |
SNPshot | rs377767324 |
SNPdbe | rs377767324 |
MSV3d | rs377767324 |
GWAS Ctlg | rs377767324 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377767324(AT;AT) |
Alt | rs377767324(AT;AT) |
Reference | Rs377767324(-;-) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48575179_48575180insAT |
CLNSRC | ClinVar |
CLNACC | RCV000021680.1, |
[PMID 18823382] The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.