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rs377767386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767386(A;A)
Make rs377767386(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51048861
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767386
ebirs377767386
HLIrs377767386
Exacrs377767386
Varsomers377767386
Maprs377767386
PheGenIrs377767386
hapmaprs377767386
1000 genomesrs377767386
hgdprs377767386
ensemblrs377767386
gopubmedrs377767386
geneviewrs377767386
scholarrs377767386
googlers377767386
pharmgkbrs377767386
gwascentralrs377767386
openSNPrs377767386
23andMers377767386
23andMe allrs377767386
SNP Nexus

SNPshotrs377767386
SNPdbers377767386
MSV3drs377767386
GWAS Ctlgrs377767386
Max Magnitude0
ClinVar
Risk rs377767386(A;A)
Alt rs377767386(A;A)
Reference rs377767386(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48575231G>A
CLNSRC ARUP SMAD4
CLNACC RCV000032041.1,


[PMID 11583957OA-icon.png] Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.