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rs377767325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs377767325(-;-)
Make rs377767325(-;TGTCTGT)
Make rs377767325(TGTCTGT;TGTCTGT)
ReferenceGRCh38 38.1/141
Chromosome18
Position51048817
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767325
ebirs377767325
HLIrs377767325
Exacrs377767325
Varsomers377767325
Maprs377767325
PheGenIrs377767325
hapmaprs377767325
1000 genomesrs377767325
hgdprs377767325
ensemblrs377767325
gopubmedrs377767325
geneviewrs377767325
scholarrs377767325
googlers377767325
pharmgkbrs377767325
gwascentralrs377767325
openSNPrs377767325
23andMers377767325
23andMe allrs377767325
SNP Nexus

SNPshotrs377767325
SNPdbers377767325
MSV3drs377767325
GWAS Ctlgrs377767325
Max Magnitude0
ClinVar
Risk rs377767325(TGTCTGT;TGTCTGT)
Alt rs377767325(TGTCTGT;TGTCTGT)
Reference rs377767325(;)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48575181_48575187dupTGTCTGT
CLNSRC ClinVar
CLNACC RCV000021681.1,


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