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rs377767340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767340(-;-)
Make rs377767340(-;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065438
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767340
ebirs377767340
HLIrs377767340
Exacrs377767340
Varsomers377767340
Maprs377767340
PheGenIrs377767340
hapmaprs377767340
1000 genomesrs377767340
hgdprs377767340
ensemblrs377767340
gopubmedrs377767340
geneviewrs377767340
scholarrs377767340
googlers377767340
pharmgkbrs377767340
gwascentralrs377767340
openSNPrs377767340
23andMers377767340
23andMe allrs377767340
SNP Nexus

SNPshotrs377767340
SNPdbers377767340
MSV3drs377767340
GWAS Ctlgrs377767340
Max Magnitude0
ClinVar
Risk rs377767340(;)
Alt rs377767340(;)
Reference rs377767340(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591808delG
CLNSRC ClinVar
CLNACC RCV000021700.1,


[PMID 18178612] Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.