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rs1060500740

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500740(C;C)
Make rs1060500740(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position51076778
GeneSMAD4
is asnp
is mentioned by
dbSNPrs1060500740
dbSNP (old)rs1060500740
ClinGenrs1060500740
ebirs1060500740
HLIrs1060500740
Exacrs1060500740
Gnomadrs1060500740
Varsomers1060500740
Maprs1060500740
PheGenIrs1060500740
Biobankrs1060500740
1000 genomesrs1060500740
hgdprs1060500740
ensemblrs1060500740
gopubmedrs1060500740
geneviewrs1060500740
scholarrs1060500740
googlers1060500740
pharmgkbrs1060500740
gwascentralrs1060500740
openSNPrs1060500740
23andMers1060500740
23andMe allrs1060500740
SNPshotrs1060500740
SNPdbers1060500740
MSV3drs1060500740
GWAS Ctlgrs1060500740
Max Magnitude0
ClinVar
Risk rs1060500740(C;C)
Alt rs1060500740(C;C)
Reference Rs1060500740(T;T)
Significance Probable-Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48603148T>C
CLNSRC
CLNACC RCV000469223.1,