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rs377767380

From SNPedia

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


Make rs377767380(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078404
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767380
ebirs377767380
HLIrs377767380
Exacrs377767380
Varsomers377767380
Maprs377767380
PheGenIrs377767380
hapmaprs377767380
1000 genomesrs377767380
hgdprs377767380
ensemblrs377767380
gopubmedrs377767380
geneviewrs377767380
scholarrs377767380
googlers377767380
pharmgkbrs377767380
gwascentralrs377767380
openSNPrs377767380
23andMers377767380
23andMe allrs377767380
SNP Nexus

SNPshotrs377767380
SNPdbers377767380
MSV3drs377767380
GWAS Ctlgrs377767380
Max Magnitude4
ClinVar
Risk rs377767380(;)
Alt rs377767380(;)
Reference rs377767380(C;C)
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.48604774delC
CLNSRC ClinVar
CLNACC RCV000021753.1,


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