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rs377767346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs377767346(A;C)
Make rs377767346(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065525
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767346
dbSNP (classic)rs377767346
ClinGenrs377767346
ebirs377767346
HLIrs377767346
Exacrs377767346
Gnomadrs377767346
Varsomers377767346
LitVarrs377767346
Maprs377767346
PheGenIrs377767346
Biobankrs377767346
1000 genomesrs377767346
hgdprs377767346
ensemblrs377767346
geneviewrs377767346
scholarrs377767346
googlers377767346
pharmgkbrs377767346
gwascentralrs377767346
openSNPrs377767346
23andMers377767346
SNPshotrs377767346
SNPdbers377767346
MSV3drs377767346
GWAS Ctlgrs377767346
Max Magnitude0
ClinVar
Risk rs377767346(C;C)
Alt rs377767346(C;C)
Reference Rs377767346(A;A)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591895A>C
CLNSRC ARUP SMAD4
CLNACC RCV000021709.1,


[PMID 10441006] SMAD genes in juvenile polyposis.