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rs377767337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs377767337(-;-)
Make rs377767337(-;AC)
ReferenceGRCh38 38.1/141
Chromosome18
Position51058383
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767337
ebirs377767337
HLIrs377767337
Exacrs377767337
Varsomers377767337
Maprs377767337
PheGenIrs377767337
hapmaprs377767337
1000 genomesrs377767337
hgdprs377767337
ensemblrs377767337
gopubmedrs377767337
geneviewrs377767337
scholarrs377767337
googlers377767337
pharmgkbrs377767337
gwascentralrs377767337
openSNPrs377767337
23andMers377767337
23andMe allrs377767337
SNP Nexus

SNPshotrs377767337
SNPdbers377767337
MSV3drs377767337
GWAS Ctlgrs377767337
Max Magnitude0
ClinVar
Risk rs377767337(;)
Alt rs377767337(;)
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.