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rs377767324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs377767324(-;-)
Make rs377767324(-;AT)
Make rs377767324(AT;AT)
ReferenceGRCh38 38.1/141
Chromosome18
Position51048809
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767324
ebirs377767324
HLIrs377767324
Exacrs377767324
Varsomers377767324
Maprs377767324
PheGenIrs377767324
hapmaprs377767324
1000 genomesrs377767324
hgdprs377767324
ensemblrs377767324
gopubmedrs377767324
geneviewrs377767324
scholarrs377767324
googlers377767324
pharmgkbrs377767324
gwascentralrs377767324
openSNPrs377767324
23andMers377767324
23andMe allrs377767324
SNP Nexus

SNPshotrs377767324
SNPdbers377767324
MSV3drs377767324
GWAS Ctlgrs377767324
Max Magnitude0
ClinVar
Risk rs377767324(AT;AT)
Alt rs377767324(AT;AT)
Reference rs377767324(;)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48575179_48575180insAT
CLNSRC ClinVar
CLNACC RCV000021680.1,


[PMID 18823382] The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.