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rs377767376

From SNPedia

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


Make rs377767376(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078395
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767376
ebirs377767376
HLIrs377767376
Exacrs377767376
Varsomers377767376
Maprs377767376
PheGenIrs377767376
hapmaprs377767376
1000 genomesrs377767376
hgdprs377767376
ensemblrs377767376
gopubmedrs377767376
geneviewrs377767376
scholarrs377767376
googlers377767376
pharmgkbrs377767376
gwascentralrs377767376
openSNPrs377767376
23andMers377767376
23andMe allrs377767376
SNP Nexus

SNPshotrs377767376
SNPdbers377767376
MSV3drs377767376
GWAS Ctlgrs377767376
Max Magnitude4
ClinVar
Risk rs377767376(AA,ATA;AA,ATA)
Alt rs377767376(AA,ATA;AA,ATA)
Reference rs377767376(A;A)
Significance Pathogenic
Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604764_48604765dupTA; NC_000018.9:g.48604765dupA
CLNSRC ClinVar
CLNACC RCV000021750.1, RCV000021748.1,


[PMID 18178612] Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.


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