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rs1060501051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501051(-;-)
Make rs1060501051(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48428380
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501051
dbSNP (old)rs1060501051
ClinGenrs1060501051
ebirs1060501051
HLIrs1060501051
Exacrs1060501051
Gnomadrs1060501051
Varsomers1060501051
Maprs1060501051
PheGenIrs1060501051
Biobankrs1060501051
1000 genomesrs1060501051
hgdprs1060501051
ensemblrs1060501051
gopubmedrs1060501051
geneviewrs1060501051
scholarrs1060501051
googlers1060501051
pharmgkbrs1060501051
gwascentralrs1060501051
openSNPrs1060501051
23andMers1060501051
23andMe allrs1060501051
SNPshotrs1060501051
SNPdbers1060501051
MSV3drs1060501051
GWAS Ctlgrs1060501051
Max Magnitude0
ClinVar
Risk rs1060501051(-;-)
Alt rs1060501051(-;-)
Reference Rs1060501051(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48720577delC
CLNSRC
CLNACC RCV000462025.1,