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rs377767361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767361(C;T)
Make rs377767361(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51076671
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767361
ebirs377767361
HLIrs377767361
Exacrs377767361
Varsomers377767361
Maprs377767361
PheGenIrs377767361
hapmaprs377767361
1000 genomesrs377767361
hgdprs377767361
ensemblrs377767361
gopubmedrs377767361
geneviewrs377767361
scholarrs377767361
googlers377767361
pharmgkbrs377767361
gwascentralrs377767361
openSNPrs377767361
23andMers377767361
23andMe allrs377767361
SNP Nexus

SNPshotrs377767361
SNPdbers377767361
MSV3drs377767361
GWAS Ctlgrs377767361
Max Magnitude0
ClinVar
Risk rs377767361(T;T)
Alt rs377767361(T;T)
Reference rs377767361(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48603041C>T
CLNSRC ARUP SMAD4
CLNACC RCV000021732.1,


[PMID 12136244] Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.