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rs377767348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs377767348(C;C)
Make rs377767348(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065554
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767348
ebirs377767348
HLIrs377767348
Exacrs377767348
Varsomers377767348
Maprs377767348
PheGenIrs377767348
hapmaprs377767348
1000 genomesrs377767348
hgdprs377767348
ensemblrs377767348
gopubmedrs377767348
geneviewrs377767348
scholarrs377767348
googlers377767348
pharmgkbrs377767348
gwascentralrs377767348
openSNPrs377767348
23andMers377767348
23andMe allrs377767348
SNP Nexus

SNPshotrs377767348
SNPdbers377767348
MSV3drs377767348
GWAS Ctlgrs377767348
Max Magnitude0
ClinVar
Risk rs377767348(C;C)
Alt rs377767348(C;C)
Reference rs377767348(T;T)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591924T>C
CLNSRC ARUP SMAD4
CLNACC RCV000021714.1,


[PMID 17873119OA-icon.png] High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.