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rs377767373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs377767373(-;-)
Make rs377767373(-;AGAG)
Make rs377767373(AGAG;AGAG)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078358
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767373
ebirs377767373
HLIrs377767373
Exacrs377767373
Varsomers377767373
Maprs377767373
PheGenIrs377767373
hapmaprs377767373
1000 genomesrs377767373
hgdprs377767373
ensemblrs377767373
gopubmedrs377767373
geneviewrs377767373
scholarrs377767373
googlers377767373
pharmgkbrs377767373
gwascentralrs377767373
openSNPrs377767373
23andMers377767373
23andMe allrs377767373
SNP Nexus

SNPshotrs377767373
SNPdbers377767373
MSV3drs377767373
GWAS Ctlgrs377767373
Max Magnitude0
ClinVar
Risk rs377767373(AGAG;AGAG)
Alt rs377767373(AGAG;AGAG)
Reference rs377767373(;)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604725_48604728dupAGAG
CLNSRC ClinVar
CLNACC RCV000021744.2,


[PMID 17873119OA-icon.png] High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.


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