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rs80338964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338964(C;T)
Make rs80338964(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51067041
GeneSMAD4
is asnp
is mentioned by
dbSNPrs80338964
ebirs80338964
HLIrs80338964
Exacrs80338964
Varsomers80338964
Maprs80338964
PheGenIrs80338964
hapmaprs80338964
1000 genomesrs80338964
hgdprs80338964
ensemblrs80338964
gopubmedrs80338964
geneviewrs80338964
scholarrs80338964
googlers80338964
pharmgkbrs80338964
gwascentralrs80338964
openSNPrs80338964
23andMers80338964
23andMe allrs80338964
SNP Nexus

SNPshotrs80338964
SNPdbers80338964
MSV3drs80338964
GWAS Ctlgrs80338964
Max Magnitude0
ClinVar
Risk rs80338964(T;T)
Alt rs80338964(T;T)
Reference rs80338964(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48593411C>T
CLNSRC ARUP SMAD4
CLNACC RCV000021723.1,


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