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rs1060501065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501065(-;-)
Make rs1060501065(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48412708
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501065
dbSNP (old)rs1060501065
ClinGenrs1060501065
ebirs1060501065
HLIrs1060501065
Exacrs1060501065
Gnomadrs1060501065
Varsomers1060501065
LitVarrs1060501065
Maprs1060501065
PheGenIrs1060501065
Biobankrs1060501065
1000 genomesrs1060501065
hgdprs1060501065
ensemblrs1060501065
gopubmedrs1060501065
geneviewrs1060501065
scholarrs1060501065
googlers1060501065
pharmgkbrs1060501065
gwascentralrs1060501065
openSNPrs1060501065
23andMers1060501065
23andMe allrs1060501065
SNPshotrs1060501065
SNPdbers1060501065
MSV3drs1060501065
GWAS Ctlgrs1060501065
Max Magnitude0
ClinVar
Risk rs1060501065(-;-)
Alt rs1060501065(-;-)
Reference Rs1060501065(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48704905delT
CLNSRC
CLNACC RCV000464500.1,