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rs377767350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs377767350(G;G)
Make rs377767350(G;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065558
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767350
ebirs377767350
HLIrs377767350
Exacrs377767350
Varsomers377767350
Maprs377767350
PheGenIrs377767350
hapmaprs377767350
1000 genomesrs377767350
hgdprs377767350
ensemblrs377767350
gopubmedrs377767350
geneviewrs377767350
scholarrs377767350
googlers377767350
pharmgkbrs377767350
gwascentralrs377767350
openSNPrs377767350
23andMers377767350
23andMe allrs377767350
SNP Nexus

SNPshotrs377767350
SNPdbers377767350
MSV3drs377767350
GWAS Ctlgrs377767350
Max Magnitude0
ClinVar
Risk rs377767350(G;G)
Alt rs377767350(G;G)
Reference rs377767350(T;T)
Significance Pathogenic
Disease JP and JP/HHT
Variation info
Gene SMAD4
CLNDBN JP and JP/HHT
Reversed 0
HGVS NC_000018.9:g.48591928T>G
CLNSRC ARUP SMAD4
CLNACC RCV000021716.1,


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