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rs377767332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767332(C;T)
Make rs377767332(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51054864
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767332
ebirs377767332
HLIrs377767332
Exacrs377767332
Varsomers377767332
Maprs377767332
PheGenIrs377767332
hapmaprs377767332
1000 genomesrs377767332
hgdprs377767332
ensemblrs377767332
gopubmedrs377767332
geneviewrs377767332
scholarrs377767332
googlers377767332
pharmgkbrs377767332
gwascentralrs377767332
openSNPrs377767332
23andMers377767332
23andMe allrs377767332
SNP Nexus

SNPshotrs377767332
SNPdbers377767332
MSV3drs377767332
GWAS Ctlgrs377767332
Max Magnitude0
ClinVar
Risk rs377767332(T;T)
Alt rs377767332(T;T)
Reference rs377767332(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48581234C>T
CLNSRC ARUP SMAD4
CLNACC RCV000021688.1,


[PMID 11583957OA-icon.png] Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.