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rs377767363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACA;CACA) 0 common in clinvar
Make rs377767363(-;-)
Make rs377767363(-;CACA)
ReferenceGRCh38 38.1/141
Chromosome18
Position51076690
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767363
dbSNP (classic)rs377767363
ClinGenrs377767363
ebirs377767363
HLIrs377767363
Exacrs377767363
Gnomadrs377767363
Varsomers377767363
LitVarrs377767363
Maprs377767363
PheGenIrs377767363
Biobankrs377767363
1000 genomesrs377767363
hgdprs377767363
ensemblrs377767363
geneviewrs377767363
scholarrs377767363
googlers377767363
pharmgkbrs377767363
gwascentralrs377767363
openSNPrs377767363
23andMers377767363
SNPshotrs377767363
SNPdbers377767363
MSV3drs377767363
GWAS Ctlgrs377767363
Max Magnitude0
ClinVar
Risk rs377767363(-;-)
Alt rs377767363(-;-)
Reference Rs377767363(CACA;CACA)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48603060_48603063delCACA
CLNSRC ClinVar
CLNACC RCV000021734.1,


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