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rs377767382

From SNPedia

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


Make rs377767382(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078406
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767382
ebirs377767382
HLIrs377767382
Exacrs377767382
Varsomers377767382
Maprs377767382
PheGenIrs377767382
hapmaprs377767382
1000 genomesrs377767382
hgdprs377767382
ensemblrs377767382
gopubmedrs377767382
geneviewrs377767382
scholarrs377767382
googlers377767382
pharmgkbrs377767382
gwascentralrs377767382
openSNPrs377767382
23andMers377767382
23andMe allrs377767382
SNP Nexus

SNPshotrs377767382
SNPdbers377767382
MSV3drs377767382
GWAS Ctlgrs377767382
Max Magnitude4
ClinVar
Risk rs377767382(C,G;C,G)
Alt rs377767382(C,G;C,G)
Reference rs377767382(T;T)
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.48604776T>C; NC_000018.9:g.48604776T>G
CLNSRC ARUP SMAD4
CLNACC RCV000021757.1, RCV000021755.1,


[PMID 15031030] A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).


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