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rs377767349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTT) 4
(GTT;GTT) 0 common in clinvar
(TTG;TTG) 0 common in clinvar


Make rs377767349(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065555
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767349
ebirs377767349
HLIrs377767349
Exacrs377767349
Varsomers377767349
Maprs377767349
PheGenIrs377767349
hapmaprs377767349
1000 genomesrs377767349
hgdprs377767349
ensemblrs377767349
gopubmedrs377767349
geneviewrs377767349
scholarrs377767349
googlers377767349
pharmgkbrs377767349
gwascentralrs377767349
openSNPrs377767349
23andMers377767349
23andMe allrs377767349
SNP Nexus

SNPshotrs377767349
SNPdbers377767349
MSV3drs377767349
GWAS Ctlgrs377767349
Max Magnitude4
ClinVar
Risk rs377767349(;)
Alt rs377767349(;)
Reference rs377767349(TTG;TTG)
Significance Pathogenic
Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Reversed 0
HGVS NC_000018.9:g.48591925_48591927delGTT
CLNSRC ClinVar
CLNACC RCV000021715.1,


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