rs377767362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGCAGCAGGCGGCTACTGCACAA;AGCAGCAGGCGGCTACTGCACAA) | 0 | common in clinvar |
Make rs377767362(-;-) |
Make rs377767362(-;AGCAGCAGGCGGCTACTGCACAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 51076672 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs377767362 |
dbSNP (classic) | rs377767362 |
ClinGen | rs377767362 |
ebi | rs377767362 |
HLI | rs377767362 |
Exac | rs377767362 |
Gnomad | rs377767362 |
Varsome | rs377767362 |
LitVar | rs377767362 |
Map | rs377767362 |
PheGenI | rs377767362 |
Biobank | rs377767362 |
1000 genomes | rs377767362 |
hgdp | rs377767362 |
ensembl | rs377767362 |
geneview | rs377767362 |
scholar | rs377767362 |
rs377767362 | |
pharmgkb | rs377767362 |
gwascentral | rs377767362 |
openSNP | rs377767362 |
23andMe | rs377767362 |
SNPshot | rs377767362 |
SNPdbe | rs377767362 |
MSV3d | rs377767362 |
GWAS Ctlg | rs377767362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377767362(-;-) |
Alt | rs377767362(-;-) |
Reference | Rs377767362(AGCAGCAGGCGGCTACTGCACAA;AGCAGCAGGCGGCTACTGCACAA) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48603042_48603064del23 |
CLNSRC | ClinVar |
CLNACC | RCV000021733.1, |
[PMID 15235019] The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.