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rs1060501047

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501047(C;T)
Make rs1060501047(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48600172
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501047
dbSNP (old)rs1060501047
ClinGenrs1060501047
ebirs1060501047
HLIrs1060501047
Exacrs1060501047
Gnomadrs1060501047
Varsomers1060501047
Maprs1060501047
PheGenIrs1060501047
Biobankrs1060501047
1000 genomesrs1060501047
hgdprs1060501047
ensemblrs1060501047
gopubmedrs1060501047
geneviewrs1060501047
scholarrs1060501047
googlers1060501047
pharmgkbrs1060501047
gwascentralrs1060501047
openSNPrs1060501047
23andMers1060501047
23andMe allrs1060501047
SNPshotrs1060501047
SNPdbers1060501047
MSV3drs1060501047
GWAS Ctlgrs1060501047
Max Magnitude0
ClinVar
Risk rs1060501047(T;T)
Alt rs1060501047(T;T)
Reference Rs1060501047(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48892369G>A
CLNSRC
CLNACC RCV000476987.1,