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rs377767323

From SNPedia

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


Make rs377767323(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position51048738
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767323
ebirs377767323
HLIrs377767323
Exacrs377767323
Varsomers377767323
Maprs377767323
PheGenIrs377767323
hapmaprs377767323
1000 genomesrs377767323
hgdprs377767323
ensemblrs377767323
gopubmedrs377767323
geneviewrs377767323
scholarrs377767323
googlers377767323
pharmgkbrs377767323
gwascentralrs377767323
openSNPrs377767323
23andMers377767323
23andMe allrs377767323
SNP Nexus

SNPshotrs377767323
SNPdbers377767323
MSV3drs377767323
GWAS Ctlgrs377767323
Max Magnitude4
ClinVar
Risk rs377767323(A;A)
Alt rs377767323(A;A)
Reference rs377767323(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.48575108G>A
CLNSRC ARUP SMAD4
CLNACC RCV000021678.1,


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