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rs377767356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767356(A;A)
Make rs377767356(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51067047
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767356
ebirs377767356
HLIrs377767356
Exacrs377767356
Varsomers377767356
Maprs377767356
PheGenIrs377767356
hapmaprs377767356
1000 genomesrs377767356
hgdprs377767356
ensemblrs377767356
gopubmedrs377767356
geneviewrs377767356
scholarrs377767356
googlers377767356
pharmgkbrs377767356
gwascentralrs377767356
openSNPrs377767356
23andMers377767356
23andMe allrs377767356
SNP Nexus

SNPshotrs377767356
SNPdbers377767356
MSV3drs377767356
GWAS Ctlgrs377767356
Max Magnitude0
ClinVar
Risk rs377767356(A;A)
Alt rs377767356(A;A)
Reference rs377767356(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48593417G>A
CLNSRC ARUP SMAD4
CLNACC RCV000021724.1,


[PMID 10797267] Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.