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rs1060501093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501093(A;G)
Make rs1060501093(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48425491
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501093
dbSNP (old)rs1060501093
ClinGenrs1060501093
ebirs1060501093
HLIrs1060501093
Exacrs1060501093
Gnomadrs1060501093
Varsomers1060501093
LitVarrs1060501093
Maprs1060501093
PheGenIrs1060501093
Biobankrs1060501093
1000 genomesrs1060501093
hgdprs1060501093
ensemblrs1060501093
gopubmedrs1060501093
geneviewrs1060501093
scholarrs1060501093
googlers1060501093
pharmgkbrs1060501093
gwascentralrs1060501093
openSNPrs1060501093
23andMers1060501093
23andMe allrs1060501093
SNPshotrs1060501093
SNPdbers1060501093
MSV3drs1060501093
GWAS Ctlgrs1060501093
Max Magnitude0
ClinVar
Risk rs1060501093(G;G)
Alt rs1060501093(G;G)
Reference Rs1060501093(A;A)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48717688T>C
CLNSRC
CLNACC RCV000472916.1,