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rs377767377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767377(-;-)
Make rs377767377(-;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078396
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767377
ebirs377767377
HLIrs377767377
Exacrs377767377
Varsomers377767377
Maprs377767377
PheGenIrs377767377
hapmaprs377767377
1000 genomesrs377767377
hgdprs377767377
ensemblrs377767377
gopubmedrs377767377
geneviewrs377767377
scholarrs377767377
googlers377767377
pharmgkbrs377767377
gwascentralrs377767377
openSNPrs377767377
23andMers377767377
23andMe allrs377767377
SNP Nexus

SNPshotrs377767377
SNPdbers377767377
MSV3drs377767377
GWAS Ctlgrs377767377
Max Magnitude0
ClinVar
Risk rs377767377(;)
Alt rs377767377(;)
Reference rs377767377(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604766delC
CLNSRC ClinVar
CLNACC RCV000021749.1,


[PMID 12417513] Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.