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rs377767347

From SNPedia

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


Make rs377767347(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065549
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767347
ebirs377767347
HLIrs377767347
Exacrs377767347
Varsomers377767347
Maprs377767347
PheGenIrs377767347
hapmaprs377767347
1000 genomesrs377767347
hgdprs377767347
ensemblrs377767347
gopubmedrs377767347
geneviewrs377767347
scholarrs377767347
googlers377767347
pharmgkbrs377767347
gwascentralrs377767347
openSNPrs377767347
23andMers377767347
23andMe allrs377767347
SNP Nexus

SNPshotrs377767347
SNPdbers377767347
MSV3drs377767347
GWAS Ctlgrs377767347
Max Magnitude4
ClinVar
Risk rs377767347(A,T;A,T)
Alt rs377767347(A,T;A,T)
Reference rs377767347(G;G)
Significance Pathogenic
Disease JP and JP/HHT Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Variation info
Gene SMAD4
CLNDBN JP and JP/HHT Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Reversed 0
HGVS NC_000018.9:g.48591919G>A; NC_000018.9:g.48591919G>T
CLNSRC ARUP SMAD4
CLNACC RCV000021712.1, RCV000021713.1,


[PMID 10797267] Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.


[PMID 20101697] Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.