rs377767337
From SNPedia
Merged into | rs377767336 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
Make rs377767337(-;-) |
Make rs377767337(-;AC) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 51058383 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs377767337 |
dbSNP (classic) | rs377767337 |
ClinGen | rs377767337 |
ebi | rs377767337 |
HLI | rs377767337 |
Exac | rs377767337 |
Gnomad | rs377767337 |
Varsome | rs377767337 |
LitVar | rs377767337 |
Map | rs377767337 |
PheGenI | rs377767337 |
Biobank | rs377767337 |
1000 genomes | rs377767337 |
hgdp | rs377767337 |
ensembl | rs377767337 |
geneview | rs377767337 |
scholar | rs377767337 |
rs377767337 | |
pharmgkb | rs377767337 |
gwascentral | rs377767337 |
openSNP | rs377767337 |
23andMe | rs377767337 |
SNPshot | rs377767337 |
SNPdbe | rs377767337 |
MSV3d | rs377767337 |
GWAS Ctlg | rs377767337 |
Status | Merged into rs377767336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs377767337(AC;AC) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48584753_48584754delAC |
CLNSRC | ClinVar |
CLNACC | RCV000021696.2, |
[PMID 12136244] Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.