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rs786204125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GCTACTGCACAAGCTGCAGCAGCTGCCC) 5.1 Juvenile polyposis syndrome
Make rs786204125(GCTACTGCACAAGCTGCAGCAGCTGCCC;GCTACTGCACAAGCTGCAGCAGCTGCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position51076682
GeneSMAD4
is asnp
is mentioned by
dbSNPrs786204125
dbSNP (classic)rs786204125
ClinGenrs786204125
ebirs786204125
HLIrs786204125
Exacrs786204125
Gnomadrs786204125
Varsomers786204125
LitVarrs786204125
Maprs786204125
PheGenIrs786204125
Biobankrs786204125
1000 genomesrs786204125
hgdprs786204125
ensemblrs786204125
geneviewrs786204125
scholarrs786204125
googlers786204125
pharmgkbrs786204125
gwascentralrs786204125
openSNPrs786204125
23andMers786204125
SNPshotrs786204125
SNPdbers786204125
MSV3drs786204125
GWAS Ctlgrs786204125
Max Magnitude5.1
ClinVar
Risk rs786204125(GCTACTGCACAAGCTGCAGCAGCTGCCC;GCTACTGCACAAGCTGCAGCAGCTGCCC)
Alt rs786204125(GCTACTGCACAAGCTGCAGCAGCTGCCC;GCTACTGCACAAGCTGCAGCAGCTGCCC)
Reference Rs786204125(-;-)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48603052_48603053insGCTACTGCACAAGCTGCAGCAGCTGCCC
CLNSRC
CLNACC RCV000168084.1,