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rs1060500734

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060500734(-;-)
Make rs1060500734(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position51067077
GeneSMAD4
is asnp
is mentioned by
dbSNPrs1060500734
dbSNP (old)rs1060500734
ClinGenrs1060500734
ebirs1060500734
HLIrs1060500734
Exacrs1060500734
Gnomadrs1060500734
Varsomers1060500734
Maprs1060500734
PheGenIrs1060500734
Biobankrs1060500734
1000 genomesrs1060500734
hgdprs1060500734
ensemblrs1060500734
gopubmedrs1060500734
geneviewrs1060500734
scholarrs1060500734
googlers1060500734
pharmgkbrs1060500734
gwascentralrs1060500734
openSNPrs1060500734
23andMers1060500734
23andMe allrs1060500734
SNPshotrs1060500734
SNPdbers1060500734
MSV3drs1060500734
GWAS Ctlgrs1060500734
Max Magnitude0
ClinVar
Risk rs1060500734(-;-)
Alt rs1060500734(-;-)
Reference Rs1060500734(A;A)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48593447delA
CLNSRC
CLNACC RCV000464430.1,