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rs1060501089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1060501089(-;-)
Make rs1060501089(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48445469
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501089
dbSNP (old)rs1060501089
ClinGenrs1060501089
ebirs1060501089
HLIrs1060501089
Exacrs1060501089
Gnomadrs1060501089
Varsomers1060501089
Maprs1060501089
PheGenIrs1060501089
Biobankrs1060501089
1000 genomesrs1060501089
hgdprs1060501089
ensemblrs1060501089
gopubmedrs1060501089
geneviewrs1060501089
scholarrs1060501089
googlers1060501089
pharmgkbrs1060501089
gwascentralrs1060501089
openSNPrs1060501089
23andMers1060501089
23andMe allrs1060501089
SNPshotrs1060501089
SNPdbers1060501089
MSV3drs1060501089
GWAS Ctlgrs1060501089
Max Magnitude0
ClinVar
Risk rs1060501089(-;-)
Alt rs1060501089(-;-)
Reference Rs1060501089(TT;TT)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48737666_48737667delAA
CLNSRC
CLNACC RCV000476231.1,