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rs1060501031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501031(-;-)
Make rs1060501031(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48463212
GeneFBN1
is asnp
is mentioned by
dbSNPrs1060501031
dbSNP (classic)rs1060501031
ClinGenrs1060501031
ebirs1060501031
HLIrs1060501031
Exacrs1060501031
Gnomadrs1060501031
Varsomers1060501031
LitVarrs1060501031
Maprs1060501031
PheGenIrs1060501031
Biobankrs1060501031
1000 genomesrs1060501031
hgdprs1060501031
ensemblrs1060501031
geneviewrs1060501031
scholarrs1060501031
googlers1060501031
pharmgkbrs1060501031
gwascentralrs1060501031
openSNPrs1060501031
23andMers1060501031
23andMe allrs1060501031
SNPshotrs1060501031
SNPdbers1060501031
MSV3drs1060501031
GWAS Ctlgrs1060501031
Max Magnitude0
ClinVar
Risk rs1060501031(-;-)
Alt rs1060501031(-;-)
Reference Rs1060501031(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48755409delG
CLNSRC
CLNACC RCV000465914.1,