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rs864622252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864622252(-;-)
Make rs864622252(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position51078320
GeneSMAD4
is asnp
is mentioned by
dbSNPrs864622252
dbSNP (classic)rs864622252
ClinGenrs864622252
ebirs864622252
HLIrs864622252
Exacrs864622252
Gnomadrs864622252
Varsomers864622252
LitVarrs864622252
Maprs864622252
PheGenIrs864622252
Biobankrs864622252
1000 genomesrs864622252
hgdprs864622252
ensemblrs864622252
geneviewrs864622252
scholarrs864622252
googlers864622252
pharmgkbrs864622252
gwascentralrs864622252
openSNPrs864622252
23andMers864622252
SNPshotrs864622252
SNPdbers864622252
MSV3drs864622252
GWAS Ctlgrs864622252
Max Magnitude0
ClinVar
Risk rs864622252(-;-)
Alt rs864622252(-;-)
Reference Rs864622252(T;T)
Significance Probable-Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604690delT
CLNSRC
CLNACC RCV000205617.1,