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rs377767369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs377767369(A;A)
Make rs377767369(A;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078333
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767369
dbSNP (classic)rs377767369
ClinGenrs377767369
ebirs377767369
HLIrs377767369
Exacrs377767369
Gnomadrs377767369
Varsomers377767369
LitVarrs377767369
Maprs377767369
PheGenIrs377767369
Biobankrs377767369
1000 genomesrs377767369
hgdprs377767369
ensemblrs377767369
geneviewrs377767369
scholarrs377767369
googlers377767369
pharmgkbrs377767369
gwascentralrs377767369
openSNPrs377767369
23andMers377767369
SNPshotrs377767369
SNPdbers377767369
MSV3drs377767369
GWAS Ctlgrs377767369
Max Magnitude0
ClinVar
Risk rs377767369(A;A)
Alt rs377767369(A;A)
Reference Rs377767369(T;T)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604703T>A
CLNSRC ARUP SMAD4
CLNACC RCV000021740.1,


[PMID 16287957] Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.