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rs377767375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377767375(G;T)
Make rs377767375(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078379
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767375
ebirs377767375
HLIrs377767375
Exacrs377767375
Varsomers377767375
Maprs377767375
PheGenIrs377767375
hapmaprs377767375
1000 genomesrs377767375
hgdprs377767375
ensemblrs377767375
gopubmedrs377767375
geneviewrs377767375
scholarrs377767375
googlers377767375
pharmgkbrs377767375
gwascentralrs377767375
openSNPrs377767375
23andMers377767375
23andMe allrs377767375
SNP Nexus

SNPshotrs377767375
SNPdbers377767375
MSV3drs377767375
GWAS Ctlgrs377767375
Max Magnitude0
ClinVar
Risk rs377767375(T;T)
Alt rs377767375(T;T)
Reference rs377767375(G;G)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604749G>T
CLNSRC ARUP SMAD4
CLNACC RCV000021747.1,


[PMID 16152648] Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.