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rs377767378

From SNPedia

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


Make rs377767378(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078402
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767378
ebirs377767378
HLIrs377767378
Exacrs377767378
Varsomers377767378
Maprs377767378
PheGenIrs377767378
hapmaprs377767378
1000 genomesrs377767378
hgdprs377767378
ensemblrs377767378
gopubmedrs377767378
geneviewrs377767378
scholarrs377767378
googlers377767378
pharmgkbrs377767378
gwascentralrs377767378
openSNPrs377767378
23andMers377767378
23andMe allrs377767378
SNP Nexus

SNPshotrs377767378
SNPdbers377767378
MSV3drs377767378
GWAS Ctlgrs377767378
Max Magnitude4
ClinVar
Risk rs377767378(;)
Alt rs377767378(;)
Reference rs377767378(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.48604772delG
CLNSRC ClinVar
CLNACC RCV000021751.1,


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