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rs1060501023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501023(C;T)
Make rs1060501023(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48430758
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501023
dbSNP (classic)rs1060501023
ClinGenrs1060501023
ebirs1060501023
HLIrs1060501023
Exacrs1060501023
Gnomadrs1060501023
Varsomers1060501023
LitVarrs1060501023
Maprs1060501023
PheGenIrs1060501023
Biobankrs1060501023
1000 genomesrs1060501023
hgdprs1060501023
ensemblrs1060501023
geneviewrs1060501023
scholarrs1060501023
googlers1060501023
pharmgkbrs1060501023
gwascentralrs1060501023
openSNPrs1060501023
23andMers1060501023
23andMe allrs1060501023
SNPshotrs1060501023
SNPdbers1060501023
MSV3drs1060501023
GWAS Ctlgrs1060501023
Max Magnitude0
ClinVar
Risk rs1060501023(T;T)
Alt rs1060501023(T;T)
Reference Rs1060501023(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48722955G>A
CLNSRC
CLNACC RCV000468306.1,