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rs1060501086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501086(A;A)
Make rs1060501086(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48503918
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501086
dbSNP (classic)rs1060501086
ClinGenrs1060501086
ebirs1060501086
HLIrs1060501086
Exacrs1060501086
Gnomadrs1060501086
Varsomers1060501086
LitVarrs1060501086
Maprs1060501086
PheGenIrs1060501086
Biobankrs1060501086
1000 genomesrs1060501086
hgdprs1060501086
ensemblrs1060501086
geneviewrs1060501086
scholarrs1060501086
googlers1060501086
pharmgkbrs1060501086
gwascentralrs1060501086
openSNPrs1060501086
23andMers1060501086
23andMe allrs1060501086
SNPshotrs1060501086
SNPdbers1060501086
MSV3drs1060501086
GWAS Ctlgrs1060501086
Max Magnitude0
ClinVar
Risk rs1060501086(A;A)
Alt rs1060501086(A;A)
Reference Rs1060501086(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48796115C>T
CLNSRC
CLNACC RCV000467145.1,