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rs397515834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs397515834(G;G)
Make rs397515834(G;TT)
ReferenceGRCh38 38.1/141
Chromosome15
Position48434694
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515834
ebirs397515834
HLIrs397515834
Exacrs397515834
Varsomers397515834
Maprs397515834
PheGenIrs397515834
hapmaprs397515834
1000 genomesrs397515834
hgdprs397515834
ensemblrs397515834
gopubmedrs397515834
geneviewrs397515834
scholarrs397515834
googlers397515834
pharmgkbrs397515834
gwascentralrs397515834
openSNPrs397515834
23andMers397515834
23andMe allrs397515834
SNP Nexus

SNPshotrs397515834
SNPdbers397515834
MSV3drs397515834
GWAS Ctlgrs397515834
Max Magnitude0
ClinVar
Risk rs397515834(G;G)
Alt rs397515834(G;G)
Reference rs397515834(TT;TT)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48726891_48726892delAAinsC
CLNSRC ClinVar
CLNACC RCV000035245.2,