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rs1060501050

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501050(-;-)
Make rs1060501050(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48534141
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501050
dbSNP (old)rs1060501050
ClinGenrs1060501050
ebirs1060501050
HLIrs1060501050
Exacrs1060501050
Gnomadrs1060501050
Varsomers1060501050
Maprs1060501050
PheGenIrs1060501050
Biobankrs1060501050
1000 genomesrs1060501050
hgdprs1060501050
ensemblrs1060501050
gopubmedrs1060501050
geneviewrs1060501050
scholarrs1060501050
googlers1060501050
pharmgkbrs1060501050
gwascentralrs1060501050
openSNPrs1060501050
23andMers1060501050
23andMe allrs1060501050
SNPshotrs1060501050
SNPdbers1060501050
MSV3drs1060501050
GWAS Ctlgrs1060501050
Max Magnitude0
ClinVar
Risk rs1060501050(-;-)
Alt rs1060501050(-;-)
Reference Rs1060501050(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48826338delC
CLNSRC
CLNACC RCV000476011.1,