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rs377767364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs377767364(-;CCCT)
Make rs377767364(CCCT;CCCT)
ReferenceGRCh38 38.1/141
Chromosome18
Position51076738
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767364
dbSNP (classic)rs377767364
ClinGenrs377767364
ebirs377767364
HLIrs377767364
Exacrs377767364
Gnomadrs377767364
Varsomers377767364
LitVarrs377767364
Maprs377767364
PheGenIrs377767364
Biobankrs377767364
1000 genomesrs377767364
hgdprs377767364
ensemblrs377767364
geneviewrs377767364
scholarrs377767364
googlers377767364
pharmgkbrs377767364
gwascentralrs377767364
openSNPrs377767364
23andMers377767364
SNPshotrs377767364
SNPdbers377767364
MSV3drs377767364
GWAS Ctlgrs377767364
Max Magnitude0
ClinVar
Risk rs377767364(CCCT;CCCT)
Alt rs377767364(CCCT;CCCT)
Reference Rs377767364(-;-)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48603108_48603109insCCCT
CLNSRC ClinVar
CLNACC RCV000021735.1,


[PMID 16287957] Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.