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rs377767345

From SNPedia

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


Make rs377767345(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065522
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767345
ebirs377767345
HLIrs377767345
Exacrs377767345
Varsomers377767345
Maprs377767345
PheGenIrs377767345
hapmaprs377767345
1000 genomesrs377767345
hgdprs377767345
ensemblrs377767345
gopubmedrs377767345
geneviewrs377767345
scholarrs377767345
googlers377767345
pharmgkbrs377767345
gwascentralrs377767345
openSNPrs377767345
23andMers377767345
23andMe allrs377767345
SNP Nexus

SNPshotrs377767345
SNPdbers377767345
MSV3drs377767345
GWAS Ctlgrs377767345
Max Magnitude4
ClinVar
Risk rs377767345(A;A)
Alt rs377767345(A;A)
Reference rs377767345(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.48591892G>A
CLNSRC ARUP SMAD4
CLNACC RCV000021708.1,


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