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rs1060501033

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501033(-;-)
Make rs1060501033(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48411045
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501033
dbSNP (old)rs1060501033
ClinGenrs1060501033
ebirs1060501033
HLIrs1060501033
Exacrs1060501033
Gnomadrs1060501033
Varsomers1060501033
Maprs1060501033
PheGenIrs1060501033
Biobankrs1060501033
1000 genomesrs1060501033
hgdprs1060501033
ensemblrs1060501033
gopubmedrs1060501033
geneviewrs1060501033
scholarrs1060501033
googlers1060501033
pharmgkbrs1060501033
gwascentralrs1060501033
openSNPrs1060501033
23andMers1060501033
23andMe allrs1060501033
SNPshotrs1060501033
SNPdbers1060501033
MSV3drs1060501033
GWAS Ctlgrs1060501033
Max Magnitude0
ClinVar
Risk rs1060501033(-;-)
Alt rs1060501033(-;-)
Reference Rs1060501033(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48703242delA
CLNSRC
CLNACC RCV000474560.1,