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rs377767354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767354(A;A)
Make rs377767354(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065607
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767354
dbSNP (classic)rs377767354
ClinGenrs377767354
ebirs377767354
HLIrs377767354
Exacrs377767354
Gnomadrs377767354
Varsomers377767354
LitVarrs377767354
Maprs377767354
PheGenIrs377767354
Biobankrs377767354
1000 genomesrs377767354
hgdprs377767354
ensemblrs377767354
geneviewrs377767354
scholarrs377767354
googlers377767354
pharmgkbrs377767354
gwascentralrs377767354
openSNPrs377767354
23andMers377767354
SNPshotrs377767354
SNPdbers377767354
MSV3drs377767354
GWAS Ctlgrs377767354
Max Magnitude0
ClinVar
Risk rs377767354(A;A)
Alt rs377767354(A;A)
Reference Rs377767354(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591977G>A
CLNSRC ARUP SMAD4
CLNACC RCV000021720.1,


[PMID 16436638OA-icon.png] Mutation screening in juvenile polyposis syndrome.