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rs377767334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 4
Make rs377767334(-;-)
Make rs377767334(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51058149
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767334
ebirs377767334
HLIrs377767334
Exacrs377767334
Varsomers377767334
Maprs377767334
PheGenIrs377767334
hapmaprs377767334
1000 genomesrs377767334
hgdprs377767334
ensemblrs377767334
gopubmedrs377767334
geneviewrs377767334
scholarrs377767334
googlers377767334
pharmgkbrs377767334
gwascentralrs377767334
openSNPrs377767334
23andMers377767334
23andMe allrs377767334
SNP Nexus

SNPshotrs377767334
SNPdbers377767334
MSV3drs377767334
GWAS Ctlgrs377767334
Max Magnitude4
ClinVar
Risk rs377767334(G;G)
Alt rs377767334(G;G)
Reference rs377767334(;)
Significance Pathogenic
Disease Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000018.9:g.48584519dupG
CLNSRC ClinVar
CLNACC RCV000021691.1, RCV000021692.1, RCV000214505.1,


[PMID 9582123] Mutations in the SMAD4/DPC4 gene in juvenile polyposis.


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