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rs377767366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767366(-;-)
Make rs377767366(-;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position51076750
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767366
ebirs377767366
HLIrs377767366
Exacrs377767366
Varsomers377767366
Maprs377767366
PheGenIrs377767366
hapmaprs377767366
1000 genomesrs377767366
hgdprs377767366
ensemblrs377767366
gopubmedrs377767366
geneviewrs377767366
scholarrs377767366
googlers377767366
pharmgkbrs377767366
gwascentralrs377767366
openSNPrs377767366
23andMers377767366
23andMe allrs377767366
SNP Nexus

SNPshotrs377767366
SNPdbers377767366
MSV3drs377767366
GWAS Ctlgrs377767366
Max Magnitude0
ClinVar
Risk rs377767366(;)
Alt rs377767366(;)
Reference rs377767366(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48603120delC
CLNSRC ClinVar
CLNACC RCV000021737.1,


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