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rs398122831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs398122831(-;-)
Make rs398122831(-;AA)
ReferenceGRCh38 38.1/141
Chromosome15
Position48412639
GeneFBN1
is asnp
is mentioned by
dbSNPrs398122831
ebirs398122831
HLIrs398122831
Exacrs398122831
Varsomers398122831
Maprs398122831
PheGenIrs398122831
hapmaprs398122831
1000 genomesrs398122831
hgdprs398122831
ensemblrs398122831
gopubmedrs398122831
geneviewrs398122831
scholarrs398122831
googlers398122831
pharmgkbrs398122831
gwascentralrs398122831
openSNPrs398122831
23andMers398122831
23andMe allrs398122831
SNP Nexus

SNPshotrs398122831
SNPdbers398122831
MSV3drs398122831
GWAS Ctlgrs398122831
Max Magnitude0
ClinVar
Risk rs398122831(;)
Alt rs398122831(;)
Reference rs398122831(AA;AA)
Significance Pathogenic
Disease Marfan lipodystrophy syndrome
Variation info
Gene FBN1
CLNDBN Marfan lipodystrophy syndrome
Reversed 1
HGVS NC_000015.9:g.48704836_48704837delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000033241.29,