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rs149062442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149062442(C;T)
Make rs149062442(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48415588
GeneFBN1
is asnp
is mentioned by
dbSNPrs149062442
ebirs149062442
HLIrs149062442
Exacrs149062442
Varsomers149062442
Maprs149062442
PheGenIrs149062442
hapmaprs149062442
1000 genomesrs149062442
hgdprs149062442
ensemblrs149062442
gopubmedrs149062442
geneviewrs149062442
scholarrs149062442
googlers149062442
pharmgkbrs149062442
gwascentralrs149062442
openSNPrs149062442
23andMers149062442
23andMe allrs149062442
SNP Nexus

SNPshotrs149062442
SNPdbers149062442
MSV3drs149062442
GWAS Ctlgrs149062442
Max Magnitude0
ClinVar
Risk rs149062442(T;T)
Alt rs149062442(T;T)
Reference rs149062442(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 0
HGVS NC_000015.9:g.48707785C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029786.1,