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rs377767353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767353(A;A)
Make rs377767353(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065606
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767353
ebirs377767353
HLIrs377767353
Exacrs377767353
Varsomers377767353
Maprs377767353
PheGenIrs377767353
hapmaprs377767353
1000 genomesrs377767353
hgdprs377767353
ensemblrs377767353
gopubmedrs377767353
geneviewrs377767353
scholarrs377767353
googlers377767353
pharmgkbrs377767353
gwascentralrs377767353
openSNPrs377767353
23andMers377767353
23andMe allrs377767353
SNP Nexus

SNPshotrs377767353
SNPdbers377767353
MSV3drs377767353
GWAS Ctlgrs377767353
Max Magnitude0
ClinVar
Risk rs377767353(A;A)
Alt rs377767353(A;A)
Reference rs377767353(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591976G>A
CLNSRC ARUP SMAD4
CLNACC RCV000021719.1,


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