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rs377767335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs377767335(-;CCGC)
Make rs377767335(CCGC;CCGC)
ReferenceGRCh38 38.1/141
Chromosome18
Position51058186
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767335
dbSNP (classic)rs377767335
ClinGenrs377767335
ebirs377767335
HLIrs377767335
Exacrs377767335
Gnomadrs377767335
Varsomers377767335
LitVarrs377767335
Maprs377767335
PheGenIrs377767335
Biobankrs377767335
1000 genomesrs377767335
hgdprs377767335
ensemblrs377767335
geneviewrs377767335
scholarrs377767335
googlers377767335
pharmgkbrs377767335
gwascentralrs377767335
openSNPrs377767335
23andMers377767335
SNPshotrs377767335
SNPdbers377767335
MSV3drs377767335
GWAS Ctlgrs377767335
Max Magnitude0
ClinVar
Risk rs377767335(CCGC;CCGC)
Alt rs377767335(CCGC;CCGC)
Reference Rs377767335(-;-)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48584556_48584557insCCGC
CLNSRC ClinVar
CLNACC RCV000021693.1,


[PMID 16436638OA-icon.png] Mutation screening in juvenile polyposis syndrome.