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rs377767339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs377767339(C;C)
Make rs377767339(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065437
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767339
ebirs377767339
HLIrs377767339
Exacrs377767339
Varsomers377767339
Maprs377767339
PheGenIrs377767339
hapmaprs377767339
1000 genomesrs377767339
hgdprs377767339
ensemblrs377767339
gopubmedrs377767339
geneviewrs377767339
scholarrs377767339
googlers377767339
pharmgkbrs377767339
gwascentralrs377767339
openSNPrs377767339
23andMers377767339
23andMe allrs377767339
SNP Nexus

SNPshotrs377767339
SNPdbers377767339
MSV3drs377767339
GWAS Ctlgrs377767339
Max Magnitude0
ClinVar
Risk rs377767339(C;C)
Alt rs377767339(C;C)
Reference rs377767339(T;T)
Significance Pathogenic
Disease Juvenile polyposis syndrome not specified
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome not specified
Reversed 0
HGVS NC_000018.9:g.48591807T>C
CLNSRC ARUP SMAD4
CLNACC RCV000021699.1, RCV000236187.1,


[PMID 18178612] Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.