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rs377767327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs377767327(A;G)
Make rs377767327(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51049289
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767327
ebirs377767327
HLIrs377767327
Exacrs377767327
Varsomers377767327
Maprs377767327
PheGenIrs377767327
hapmaprs377767327
1000 genomesrs377767327
hgdprs377767327
ensemblrs377767327
gopubmedrs377767327
geneviewrs377767327
scholarrs377767327
googlers377767327
pharmgkbrs377767327
gwascentralrs377767327
openSNPrs377767327
23andMers377767327
23andMe allrs377767327
SNP Nexus

SNPshotrs377767327
SNPdbers377767327
MSV3drs377767327
GWAS Ctlgrs377767327
Max Magnitude0
ClinVar
Risk rs377767327(G;G)
Alt rs377767327(G;G)
Reference rs377767327(A;A)
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.48575659A>G
CLNSRC ARUP SMAD4
CLNACC RCV000021683.1, RCV000235856.1,


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