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rs1060501014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501014(C;C)
Make rs1060501014(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48415567
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501014
dbSNP (old)rs1060501014
ClinGenrs1060501014
ebirs1060501014
HLIrs1060501014
Exacrs1060501014
Gnomadrs1060501014
Varsomers1060501014
LitVarrs1060501014
Maprs1060501014
PheGenIrs1060501014
Biobankrs1060501014
1000 genomesrs1060501014
hgdprs1060501014
ensemblrs1060501014
gopubmedrs1060501014
geneviewrs1060501014
scholarrs1060501014
googlers1060501014
pharmgkbrs1060501014
gwascentralrs1060501014
openSNPrs1060501014
23andMers1060501014
23andMe allrs1060501014
SNPshotrs1060501014
SNPdbers1060501014
MSV3drs1060501014
GWAS Ctlgrs1060501014
Max Magnitude0
ClinVar
Risk rs1060501014(C;C)
Alt rs1060501014(C;C)
Reference Rs1060501014(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48707764A>G
CLNSRC
CLNACC RCV000457775.1,