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rs1060501094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501094(-;-)
Make rs1060501094(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48526140
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501094
dbSNP (classic)rs1060501094
ClinGenrs1060501094
ebirs1060501094
HLIrs1060501094
Exacrs1060501094
Gnomadrs1060501094
Varsomers1060501094
LitVarrs1060501094
Maprs1060501094
PheGenIrs1060501094
Biobankrs1060501094
1000 genomesrs1060501094
hgdprs1060501094
ensemblrs1060501094
geneviewrs1060501094
scholarrs1060501094
googlers1060501094
pharmgkbrs1060501094
gwascentralrs1060501094
openSNPrs1060501094
23andMers1060501094
23andMe allrs1060501094
SNPshotrs1060501094
SNPdbers1060501094
MSV3drs1060501094
GWAS Ctlgrs1060501094
Max Magnitude0
ClinVar
Risk rs1060501094(-;-)
Alt rs1060501094(-;-)
Reference Rs1060501094(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48818337delG
CLNSRC
CLNACC RCV000460221.1,