Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060501021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501021(C;C)
Make rs1060501021(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48494210
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501021
dbSNP (old)rs1060501021
ClinGenrs1060501021
ebirs1060501021
HLIrs1060501021
Exacrs1060501021
Gnomadrs1060501021
Varsomers1060501021
LitVarrs1060501021
Maprs1060501021
PheGenIrs1060501021
Biobankrs1060501021
1000 genomesrs1060501021
hgdprs1060501021
ensemblrs1060501021
gopubmedrs1060501021
geneviewrs1060501021
scholarrs1060501021
googlers1060501021
pharmgkbrs1060501021
gwascentralrs1060501021
openSNPrs1060501021
23andMers1060501021
23andMe allrs1060501021
SNPshotrs1060501021
SNPdbers1060501021
MSV3drs1060501021
GWAS Ctlgrs1060501021
Max Magnitude0
ClinVar
Risk rs1060501021(C;C)
Alt rs1060501021(C;C)
Reference Rs1060501021(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48786407A>G
CLNSRC
CLNACC RCV000460579.1,