Have questions? Visit https://www.reddit.com/r/SNPedia

rs377767383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4
Make rs377767383(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078408
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767383
ebirs377767383
HLIrs377767383
Exacrs377767383
Varsomers377767383
Maprs377767383
PheGenIrs377767383
hapmaprs377767383
1000 genomesrs377767383
hgdprs377767383
ensemblrs377767383
gopubmedrs377767383
geneviewrs377767383
scholarrs377767383
googlers377767383
pharmgkbrs377767383
gwascentralrs377767383
openSNPrs377767383
23andMers377767383
23andMe allrs377767383
SNP Nexus

SNPshotrs377767383
SNPdbers377767383
MSV3drs377767383
GWAS Ctlgrs377767383
Max Magnitude4
ClinVar
Risk rs377767383(T;T)
Alt rs377767383(T;T)
Reference rs377767383(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.48604778C>T
CLNSRC ARUP SMAD4
CLNACC RCV000021756.1,


[PMID 15031030] A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).