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rs1060501039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501039(A;A)
Make rs1060501039(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48474554
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501039
dbSNP (old)rs1060501039
ClinGenrs1060501039
ebirs1060501039
HLIrs1060501039
Exacrs1060501039
Gnomadrs1060501039
Varsomers1060501039
LitVarrs1060501039
Maprs1060501039
PheGenIrs1060501039
Biobankrs1060501039
1000 genomesrs1060501039
hgdprs1060501039
ensemblrs1060501039
gopubmedrs1060501039
geneviewrs1060501039
scholarrs1060501039
googlers1060501039
pharmgkbrs1060501039
gwascentralrs1060501039
openSNPrs1060501039
23andMers1060501039
23andMe allrs1060501039
SNPshotrs1060501039
SNPdbers1060501039
MSV3drs1060501039
GWAS Ctlgrs1060501039
Max Magnitude0
ClinVar
Risk rs1060501039(A;A)
Alt rs1060501039(A;A)
Reference Rs1060501039(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48766751C>T
CLNSRC
CLNACC RCV000463734.1,