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rs377767371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767371(G;T)
Make rs377767371(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078337
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767371
ebirs377767371
HLIrs377767371
Exacrs377767371
Varsomers377767371
Maprs377767371
PheGenIrs377767371
hapmaprs377767371
1000 genomesrs377767371
hgdprs377767371
ensemblrs377767371
gopubmedrs377767371
geneviewrs377767371
scholarrs377767371
googlers377767371
pharmgkbrs377767371
gwascentralrs377767371
openSNPrs377767371
23andMers377767371
23andMe allrs377767371
SNP Nexus

SNPshotrs377767371
SNPdbers377767371
MSV3drs377767371
GWAS Ctlgrs377767371
Max Magnitude0
ClinVar
Risk rs377767371(T;T)
Alt rs377767371(T;T)
Reference rs377767371(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604707G>T
CLNSRC ARUP SMAD4
CLNACC RCV000021742.1,


[PMID 15235019OA-icon.png] The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.