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

rs1060501055

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501055(G;G)
Make rs1060501055(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48421997
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501055
dbSNP (old)rs1060501055
ClinGenrs1060501055
ebirs1060501055
HLIrs1060501055
Exacrs1060501055
Gnomadrs1060501055
Varsomers1060501055
Maprs1060501055
PheGenIrs1060501055
Biobankrs1060501055
1000 genomesrs1060501055
hgdprs1060501055
ensemblrs1060501055
gopubmedrs1060501055
geneviewrs1060501055
scholarrs1060501055
googlers1060501055
pharmgkbrs1060501055
gwascentralrs1060501055
openSNPrs1060501055
23andMers1060501055
23andMe allrs1060501055
SNPshotrs1060501055
SNPdbers1060501055
MSV3drs1060501055
GWAS Ctlgrs1060501055
Max Magnitude0
ClinVar
Risk rs1060501055(G;G)
Alt rs1060501055(G;G)
Reference Rs1060501055(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48714194A>C
CLNSRC
CLNACC RCV000465552.1,