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rs1060500733

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500733(C;T)
Make rs1060500733(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position51065563
GeneSMAD4
is asnp
is mentioned by
dbSNPrs1060500733
dbSNP (old)rs1060500733
ClinGenrs1060500733
ebirs1060500733
HLIrs1060500733
Exacrs1060500733
Gnomadrs1060500733
Varsomers1060500733
Maprs1060500733
PheGenIrs1060500733
Biobankrs1060500733
1000 genomesrs1060500733
hgdprs1060500733
ensemblrs1060500733
gopubmedrs1060500733
geneviewrs1060500733
scholarrs1060500733
googlers1060500733
pharmgkbrs1060500733
gwascentralrs1060500733
openSNPrs1060500733
23andMers1060500733
23andMe allrs1060500733
SNPshotrs1060500733
SNPdbers1060500733
MSV3drs1060500733
GWAS Ctlgrs1060500733
Max Magnitude0
ClinVar
Risk rs1060500733(T;T)
Alt rs1060500733(T;T)
Reference Rs1060500733(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591933C>T
CLNSRC
CLNACC RCV000457634.1,