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rs1060501058

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1060501058(AA;C)
Make rs1060501058(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48505096
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501058
dbSNP (old)rs1060501058
ClinGenrs1060501058
ebirs1060501058
HLIrs1060501058
Exacrs1060501058
Gnomadrs1060501058
Varsomers1060501058
Maprs1060501058
PheGenIrs1060501058
Biobankrs1060501058
1000 genomesrs1060501058
hgdprs1060501058
ensemblrs1060501058
gopubmedrs1060501058
geneviewrs1060501058
scholarrs1060501058
googlers1060501058
pharmgkbrs1060501058
gwascentralrs1060501058
openSNPrs1060501058
23andMers1060501058
23andMe allrs1060501058
SNPshotrs1060501058
SNPdbers1060501058
MSV3drs1060501058
GWAS Ctlgrs1060501058
Max Magnitude0
ClinVar
Risk rs1060501058(C;C)
Alt rs1060501058(C;C)
Reference Rs1060501058(AA;AA)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48797293_48797294delTTinsG
CLNSRC
CLNACC RCV000466643.1,