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rs377767357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767357(A;A)
Make rs377767357(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51067072
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767357
ebirs377767357
HLIrs377767357
Exacrs377767357
Varsomers377767357
Maprs377767357
PheGenIrs377767357
hapmaprs377767357
1000 genomesrs377767357
hgdprs377767357
ensemblrs377767357
gopubmedrs377767357
geneviewrs377767357
scholarrs377767357
googlers377767357
pharmgkbrs377767357
gwascentralrs377767357
openSNPrs377767357
23andMers377767357
23andMe allrs377767357
SNP Nexus

SNPshotrs377767357
SNPdbers377767357
MSV3drs377767357
GWAS Ctlgrs377767357
Max Magnitude0
ClinVar
Risk rs377767357(A;A)
Alt rs377767357(A;A)
Reference rs377767357(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48593442G>A
CLNSRC ARUP SMAD4
CLNACC RCV000021725.1,


[PMID 18178612] Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.