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rs397515805

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515805(A;A)
Make rs397515805(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48470726
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515805
ebirs397515805
HLIrs397515805
Exacrs397515805
Varsomers397515805
Maprs397515805
PheGenIrs397515805
hapmaprs397515805
1000 genomesrs397515805
hgdprs397515805
ensemblrs397515805
gopubmedrs397515805
geneviewrs397515805
scholarrs397515805
googlers397515805
pharmgkbrs397515805
gwascentralrs397515805
openSNPrs397515805
23andMers397515805
23andMe allrs397515805
SNP Nexus

SNPshotrs397515805
SNPdbers397515805
MSV3drs397515805
GWAS Ctlgrs397515805
Max Magnitude0
ClinVar
Risk rs397515805(A,C;A,C)
Alt rs397515805(A,C;A,C)
Reference rs397515805(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48762923C>G; NC_000015.9:g.48762923C>T
CLNSRC ClinVar
CLNACC RCV000035199.2, RCV000035196.2,