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rs112289537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112289537(-;-)
Make rs112289537(-;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48516299
GeneFBN1
is asnp
is mentioned by
dbSNPrs112289537
ebirs112289537
HLIrs112289537
Exacrs112289537
Varsomers112289537
Maprs112289537
PheGenIrs112289537
hapmaprs112289537
1000 genomesrs112289537
hgdprs112289537
ensemblrs112289537
gopubmedrs112289537
geneviewrs112289537
scholarrs112289537
googlers112289537
pharmgkbrs112289537
gwascentralrs112289537
openSNPrs112289537
23andMers112289537
23andMe allrs112289537
SNP Nexus

SNPshotrs112289537
SNPdbers112289537
MSV3drs112289537
GWAS Ctlgrs112289537
Max Magnitude0
ClinVar
Risk rs112289537(;)
Alt rs112289537(;)
Reference rs112289537(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48808496delG
CLNSRC ClinVar LabCorp
CLNACC RCV000029693.1,