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rs377767331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767331(C;G)
Make rs377767331(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51054859
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767331
ebirs377767331
HLIrs377767331
Exacrs377767331
Varsomers377767331
Maprs377767331
PheGenIrs377767331
hapmaprs377767331
1000 genomesrs377767331
hgdprs377767331
ensemblrs377767331
gopubmedrs377767331
geneviewrs377767331
scholarrs377767331
googlers377767331
pharmgkbrs377767331
gwascentralrs377767331
openSNPrs377767331
23andMers377767331
23andMe allrs377767331
SNP Nexus

SNPshotrs377767331
SNPdbers377767331
MSV3drs377767331
GWAS Ctlgrs377767331
Max Magnitude0
ClinVar
Risk rs377767331(G;G)
Alt rs377767331(G;G)
Reference rs377767331(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000018.9:g.48581229C>G
CLNSRC ARUP SMAD4
CLNACC RCV000021687.1, RCV000223655.1,


[PMID 10441006] SMAD genes in juvenile polyposis.