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rs377767351

From SNPedia

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


Make rs377767351(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065569
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767351
ebirs377767351
HLIrs377767351
Exacrs377767351
Varsomers377767351
Maprs377767351
PheGenIrs377767351
hapmaprs377767351
1000 genomesrs377767351
hgdprs377767351
ensemblrs377767351
gopubmedrs377767351
geneviewrs377767351
scholarrs377767351
googlers377767351
pharmgkbrs377767351
gwascentralrs377767351
openSNPrs377767351
23andMers377767351
23andMe allrs377767351
SNP Nexus

SNPshotrs377767351
SNPdbers377767351
MSV3drs377767351
GWAS Ctlgrs377767351
Max Magnitude4
ClinVar
Risk
Alt
Reference Rs377767351(CT;CT)
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.48591939_48591940delTC
CLNSRC ClinVar
CLNACC RCV000021717.1,


[PMID 20101697] Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.