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rs397515814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515814(A;A)
Make rs397515814(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48465573
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515814
ebirs397515814
HLIrs397515814
Exacrs397515814
Varsomers397515814
Maprs397515814
PheGenIrs397515814
hapmaprs397515814
1000 genomesrs397515814
hgdprs397515814
ensemblrs397515814
gopubmedrs397515814
geneviewrs397515814
scholarrs397515814
googlers397515814
pharmgkbrs397515814
gwascentralrs397515814
openSNPrs397515814
23andMers397515814
23andMe allrs397515814
SNP Nexus

SNPshotrs397515814
SNPdbers397515814
MSV3drs397515814
GWAS Ctlgrs397515814
Max Magnitude0
ClinVar
Risk rs397515814(A;A)
Alt rs397515814(A;A)
Reference rs397515814(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48757770C>T
CLNSRC ClinVar
CLNACC RCV000035213.2,