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rs377767344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs377767344(-;-)
Make rs377767344(-;GT)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065509
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767344
ebirs377767344
HLIrs377767344
Exacrs377767344
Varsomers377767344
Maprs377767344
PheGenIrs377767344
hapmaprs377767344
1000 genomesrs377767344
hgdprs377767344
ensemblrs377767344
gopubmedrs377767344
geneviewrs377767344
scholarrs377767344
googlers377767344
pharmgkbrs377767344
gwascentralrs377767344
openSNPrs377767344
23andMers377767344
23andMe allrs377767344
SNP Nexus

SNPshotrs377767344
SNPdbers377767344
MSV3drs377767344
GWAS Ctlgrs377767344
Max Magnitude0
ClinVar
Risk rs377767344(;)
Alt rs377767344(;)
Reference rs377767344(TG;TG)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591879_48591880delGT
CLNSRC ClinVar
CLNACC RCV000021706.1,


[PMID 9582123] Mutations in the SMAD4/DPC4 gene in juvenile polyposis.