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rs398122833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122833(G;T)
Make rs398122833(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48412568
GeneFBN1
is asnp
is mentioned by
dbSNPrs398122833
ebirs398122833
HLIrs398122833
Exacrs398122833
Varsomers398122833
Maprs398122833
PheGenIrs398122833
hapmaprs398122833
1000 genomesrs398122833
hgdprs398122833
ensemblrs398122833
gopubmedrs398122833
geneviewrs398122833
scholarrs398122833
googlers398122833
pharmgkbrs398122833
gwascentralrs398122833
openSNPrs398122833
23andMers398122833
23andMe allrs398122833
SNP Nexus

SNPshotrs398122833
SNPdbers398122833
MSV3drs398122833
GWAS Ctlgrs398122833
Max Magnitude0
ClinVar
Risk rs398122833(T;T)
Alt rs398122833(T;T)
Reference rs398122833(G;G)
Significance Pathogenic
Disease Marfan lipodystrophy syndrome
Variation info
Gene FBN1
CLNDBN Marfan lipodystrophy syndrome
Reversed 1
HGVS NC_000015.9:g.48704765C>A; NC_000015.9:g.48704765C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033243.28, RCV000210934.1,