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rs1060501038

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501038(-;-)
Make rs1060501038(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48520672
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501038
dbSNP (old)rs1060501038
ClinGenrs1060501038
ebirs1060501038
HLIrs1060501038
Exacrs1060501038
Gnomadrs1060501038
Varsomers1060501038
Maprs1060501038
PheGenIrs1060501038
Biobankrs1060501038
1000 genomesrs1060501038
hgdprs1060501038
ensemblrs1060501038
gopubmedrs1060501038
geneviewrs1060501038
scholarrs1060501038
googlers1060501038
pharmgkbrs1060501038
gwascentralrs1060501038
openSNPrs1060501038
23andMers1060501038
23andMe allrs1060501038
SNPshotrs1060501038
SNPdbers1060501038
MSV3drs1060501038
GWAS Ctlgrs1060501038
Max Magnitude0
ClinVar
Risk rs1060501038(-;-)
Alt rs1060501038(-;-)
Reference Rs1060501038(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48812869delG
CLNSRC
CLNACC RCV000475710.1,