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rs1060500739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGAAA;GGAAA) 0 common in clinvar
Make rs1060500739(-;-)
Make rs1060500739(-;AAGGA)
Make rs1060500739(AAGGA;AAGGA)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position51048699
GeneSMAD4
is asnp
is mentioned by
dbSNPrs1060500739
dbSNP (classic)rs1060500739
ClinGenrs1060500739
ebirs1060500739
HLIrs1060500739
Exacrs1060500739
Gnomadrs1060500739
Varsomers1060500739
LitVarrs1060500739
Maprs1060500739
PheGenIrs1060500739
Biobankrs1060500739
1000 genomesrs1060500739
hgdprs1060500739
ensemblrs1060500739
geneviewrs1060500739
scholarrs1060500739
googlers1060500739
pharmgkbrs1060500739
gwascentralrs1060500739
openSNPrs1060500739
23andMers1060500739
23andMe allrs1060500739
SNPshotrs1060500739
SNPdbers1060500739
MSV3drs1060500739
GWAS Ctlgrs1060500739
Max Magnitude0
ClinVar
Risk rs1060500739(-;-)
Alt rs1060500739(-;-)
Reference Rs1060500739(GGAAA;GGAAA)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48575069_48575073delAAGGA
CLNSRC
CLNACC RCV000467655.1,