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rs377767387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4
(G;G) 0 common in clinvar


Make rs377767387(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position51076777
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767387
ebirs377767387
HLIrs377767387
Exacrs377767387
Varsomers377767387
Maprs377767387
PheGenIrs377767387
hapmaprs377767387
1000 genomesrs377767387
hgdprs377767387
ensemblrs377767387
gopubmedrs377767387
geneviewrs377767387
scholarrs377767387
googlers377767387
pharmgkbrs377767387
gwascentralrs377767387
openSNPrs377767387
23andMers377767387
23andMe allrs377767387
SNP Nexus

SNPshotrs377767387
SNPdbers377767387
MSV3drs377767387
GWAS Ctlgrs377767387
Max Magnitude4
ClinVar
Risk rs377767387(A;A)
Alt rs377767387(A;A)
Reference rs377767387(G;G)
Significance Pathogenic
Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Reversed 0
HGVS NC_000018.9:g.48603147G>A
CLNSRC ARUP SMAD4
CLNACC RCV000032042.1,


[PMID 21572342] Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.