Have questions? Visit https://www.reddit.com/r/SNPedia

rs377767370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767370(A;A)
Make rs377767370(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078335
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767370
ebirs377767370
HLIrs377767370
Exacrs377767370
Varsomers377767370
Maprs377767370
PheGenIrs377767370
hapmaprs377767370
1000 genomesrs377767370
hgdprs377767370
ensemblrs377767370
gopubmedrs377767370
geneviewrs377767370
scholarrs377767370
googlers377767370
pharmgkbrs377767370
gwascentralrs377767370
openSNPrs377767370
23andMers377767370
23andMe allrs377767370
SNP Nexus

SNPshotrs377767370
SNPdbers377767370
MSV3drs377767370
GWAS Ctlgrs377767370
Max Magnitude0
ClinVar
Risk rs377767370(A;A)
Alt rs377767370(A;A)
Reference rs377767370(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604705G>A
CLNSRC ARUP SMAD4
CLNACC RCV000021741.1,


[PMID 18355998] Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy.