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rs377767360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4
Make rs377767360(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51076662
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767360
ebirs377767360
HLIrs377767360
Exacrs377767360
Varsomers377767360
Maprs377767360
PheGenIrs377767360
hapmaprs377767360
1000 genomesrs377767360
hgdprs377767360
ensemblrs377767360
gopubmedrs377767360
geneviewrs377767360
scholarrs377767360
googlers377767360
pharmgkbrs377767360
gwascentralrs377767360
openSNPrs377767360
23andMers377767360
23andMe allrs377767360
SNP Nexus

SNPshotrs377767360
SNPdbers377767360
MSV3drs377767360
GWAS Ctlgrs377767360
Max Magnitude4
ClinVar
Risk rs377767360(T;T)
Alt rs377767360(T;T)
Reference rs377767360(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000018.9:g.48603032C>T
CLNSRC ARUP SMAD4 OMIM Allelic Variant
CLNACC RCV000021731.1, RCV000023059.2, RCV000163892.1,


[PMID 10764709OA-icon.png] Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.