Have questions? Visit https://www.reddit.com/r/SNPedia

rs377767355

From SNPedia

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


Make rs377767355(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position51067027
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767355
ebirs377767355
HLIrs377767355
Exacrs377767355
Varsomers377767355
Maprs377767355
PheGenIrs377767355
hapmaprs377767355
1000 genomesrs377767355
hgdprs377767355
ensemblrs377767355
gopubmedrs377767355
geneviewrs377767355
scholarrs377767355
googlers377767355
pharmgkbrs377767355
gwascentralrs377767355
openSNPrs377767355
23andMers377767355
23andMe allrs377767355
SNP Nexus

SNPshotrs377767355
SNPdbers377767355
MSV3drs377767355
GWAS Ctlgrs377767355
Max Magnitude4
ClinVar
Risk rs377767355(A;A)
Alt rs377767355(A;A)
Reference rs377767355(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.48593397T>A
CLNSRC ARUP SMAD4
CLNACC RCV000021721.1,


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