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rs377767343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767343(-;-)
Make rs377767343(-;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065504
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767343
ebirs377767343
HLIrs377767343
Exacrs377767343
Varsomers377767343
Maprs377767343
PheGenIrs377767343
hapmaprs377767343
1000 genomesrs377767343
hgdprs377767343
ensemblrs377767343
gopubmedrs377767343
geneviewrs377767343
scholarrs377767343
googlers377767343
pharmgkbrs377767343
gwascentralrs377767343
openSNPrs377767343
23andMers377767343
23andMe allrs377767343
SNP Nexus

SNPshotrs377767343
SNPdbers377767343
MSV3drs377767343
GWAS Ctlgrs377767343
Max Magnitude0
ClinVar
Risk rs377767343(;)
Alt rs377767343(;)
Reference rs377767343(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591874delC
CLNSRC ClinVar
CLNACC RCV000021705.1,


[PMID 12417513] Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.