rs377767376
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 4 | |
(A;A) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 51078395 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs377767376 |
dbSNP (classic) | rs377767376 |
ClinGen | rs377767376 |
ebi | rs377767376 |
HLI | rs377767376 |
Exac | rs377767376 |
Gnomad | rs377767376 |
Varsome | rs377767376 |
LitVar | rs377767376 |
Map | rs377767376 |
PheGenI | rs377767376 |
Biobank | rs377767376 |
1000 genomes | rs377767376 |
hgdp | rs377767376 |
ensembl | rs377767376 |
geneview | rs377767376 |
scholar | rs377767376 |
rs377767376 | |
pharmgkb | rs377767376 |
gwascentral | rs377767376 |
openSNP | rs377767376 |
23andMe | rs377767376 |
SNPshot | rs377767376 |
SNPdbe | rs377767376 |
MSV3d | rs377767376 |
GWAS Ctlg | rs377767376 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | Rs377767376(A;A) rs377767376(TA;TA) |
Alt | Rs377767376(A;A) rs377767376(TA;TA) |
Reference | Rs377767376(-;-) |
Significance | Pathogenic |
Disease | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48604764_48604765dupTA; NC_000018.9:g.48604765dupA |
CLNSRC | ClinVar |
CLNACC | RCV000021750.1, RCV000021748.1, |
[PMID 18178612] Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
[PMID 20101697] Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.