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rs1060501024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501024(G;T)
Make rs1060501024(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48503820
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501024
dbSNP (old)rs1060501024
ClinGenrs1060501024
ebirs1060501024
HLIrs1060501024
Exacrs1060501024
Gnomadrs1060501024
Varsomers1060501024
Maprs1060501024
PheGenIrs1060501024
Biobankrs1060501024
1000 genomesrs1060501024
hgdprs1060501024
ensemblrs1060501024
gopubmedrs1060501024
geneviewrs1060501024
scholarrs1060501024
googlers1060501024
pharmgkbrs1060501024
gwascentralrs1060501024
openSNPrs1060501024
23andMers1060501024
23andMe allrs1060501024
SNPshotrs1060501024
SNPdbers1060501024
MSV3drs1060501024
GWAS Ctlgrs1060501024
Max Magnitude0
ClinVar
Risk rs1060501024(T;T)
Alt rs1060501024(T;T)
Reference Rs1060501024(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48796017C>A
CLNSRC
CLNACC RCV000476523.1,