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rs148831709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148831709(C;T)
Make rs148831709(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48428373
GeneFBN1
is asnp
is mentioned by
dbSNPrs148831709
ebirs148831709
HLIrs148831709
Exacrs148831709
Varsomers148831709
Maprs148831709
PheGenIrs148831709
hapmaprs148831709
1000 genomesrs148831709
hgdprs148831709
ensemblrs148831709
gopubmedrs148831709
geneviewrs148831709
scholarrs148831709
googlers148831709
pharmgkbrs148831709
gwascentralrs148831709
openSNPrs148831709
23andMers148831709
23andMe allrs148831709
SNP Nexus

SNPshotrs148831709
SNPdbers148831709
MSV3drs148831709
GWAS Ctlgrs148831709
Max Magnitude0
ClinVar
Risk rs148831709(T;T)
Alt rs148831709(T;T)
Reference rs148831709(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 0
HGVS NC_000015.9:g.48720570C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029771.1,