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rs1060500744

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500744(-;-)
Make rs1060500744(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position51078337
GeneSMAD4
is asnp
is mentioned by
dbSNPrs1060500744
dbSNP (old)rs1060500744
ClinGenrs1060500744
ebirs1060500744
HLIrs1060500744
Exacrs1060500744
Gnomadrs1060500744
Varsomers1060500744
Maprs1060500744
PheGenIrs1060500744
Biobankrs1060500744
1000 genomesrs1060500744
hgdprs1060500744
ensemblrs1060500744
gopubmedrs1060500744
geneviewrs1060500744
scholarrs1060500744
googlers1060500744
pharmgkbrs1060500744
gwascentralrs1060500744
openSNPrs1060500744
23andMers1060500744
23andMe allrs1060500744
SNPshotrs1060500744
SNPdbers1060500744
MSV3drs1060500744
GWAS Ctlgrs1060500744
Max Magnitude0
ClinVar
Risk rs1060500744(-;-)
Alt rs1060500744(-;-)
Reference Rs1060500744(G;G)
Significance Probable-Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604707delG
CLNSRC
CLNACC RCV000457769.1,