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rs1060501096

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501096(-;-)
Make rs1060501096(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48513565
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501096
dbSNP (old)rs1060501096
ClinGenrs1060501096
ebirs1060501096
HLIrs1060501096
Exacrs1060501096
Gnomadrs1060501096
Varsomers1060501096
Maprs1060501096
PheGenIrs1060501096
Biobankrs1060501096
1000 genomesrs1060501096
hgdprs1060501096
ensemblrs1060501096
gopubmedrs1060501096
geneviewrs1060501096
scholarrs1060501096
googlers1060501096
pharmgkbrs1060501096
gwascentralrs1060501096
openSNPrs1060501096
23andMers1060501096
23andMe allrs1060501096
SNPshotrs1060501096
SNPdbers1060501096
MSV3drs1060501096
GWAS Ctlgrs1060501096
Max Magnitude0
ClinVar
Risk rs1060501096(-;-)
Alt rs1060501096(-;-)
Reference Rs1060501096(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48805762delC
CLNSRC
CLNACC RCV000468601.1,