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rs377767329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs377767329(A;A)
Make rs377767329(A;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51049307
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767329
ebirs377767329
HLIrs377767329
Exacrs377767329
Varsomers377767329
Maprs377767329
PheGenIrs377767329
hapmaprs377767329
1000 genomesrs377767329
hgdprs377767329
ensemblrs377767329
gopubmedrs377767329
geneviewrs377767329
scholarrs377767329
googlers377767329
pharmgkbrs377767329
gwascentralrs377767329
openSNPrs377767329
23andMers377767329
23andMe allrs377767329
SNP Nexus

SNPshotrs377767329
SNPdbers377767329
MSV3drs377767329
GWAS Ctlgrs377767329
Max Magnitude0
ClinVar
Risk rs377767329(A;A)
Alt rs377767329(A;A)
Reference rs377767329(T;T)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48575677T>A
CLNSRC ARUP SMAD4
CLNACC RCV000021685.1,


[PMID 17873119OA-icon.png] High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.