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rs1060500738

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500738(C;C)
Make rs1060500738(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position51078303
GeneSMAD4
is asnp
is mentioned by
dbSNPrs1060500738
dbSNP (old)rs1060500738
ClinGenrs1060500738
ebirs1060500738
HLIrs1060500738
Exacrs1060500738
Gnomadrs1060500738
Varsomers1060500738
Maprs1060500738
PheGenIrs1060500738
Biobankrs1060500738
1000 genomesrs1060500738
hgdprs1060500738
ensemblrs1060500738
gopubmedrs1060500738
geneviewrs1060500738
scholarrs1060500738
googlers1060500738
pharmgkbrs1060500738
gwascentralrs1060500738
openSNPrs1060500738
23andMers1060500738
23andMe allrs1060500738
SNPshotrs1060500738
SNPdbers1060500738
MSV3drs1060500738
GWAS Ctlgrs1060500738
Max Magnitude0
ClinVar
Risk rs1060500738(C;C)
Alt rs1060500738(C;C)
Reference Rs1060500738(T;T)
Significance Probable-Pathogenic
Disease Juvenile polyposis syndrome not provided
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome not provided
Reversed 0
HGVS NC_000018.9:g.48604673T>C
CLNSRC
CLNACC RCV000460831.1, RCV000489838.1,