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rs863224507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224507(A;A)
Make rs863224507(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position51067021
GeneSMAD4
is asnp
is mentioned by
dbSNPrs863224507
dbSNP (classic)rs863224507
ClinGenrs863224507
ebirs863224507
HLIrs863224507
Exacrs863224507
Gnomadrs863224507
Varsomers863224507
LitVarrs863224507
Maprs863224507
PheGenIrs863224507
Biobankrs863224507
1000 genomesrs863224507
hgdprs863224507
ensemblrs863224507
geneviewrs863224507
scholarrs863224507
googlers863224507
pharmgkbrs863224507
gwascentralrs863224507
openSNPrs863224507
23andMers863224507
SNPshotrs863224507
SNPdbers863224507
MSV3drs863224507
GWAS Ctlgrs863224507
Max Magnitude0
ClinVar
Risk rs863224507(A;A)
Alt rs863224507(A;A)
Reference Rs863224507(T;T)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48593391T>A
CLNSRC
CLNACC RCV000200787.1,