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rs397515799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 5.5 Marfan syndrome mutation
(T;T) 0 common in clinvar


Make rs397515799(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position48474567
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515799
dbSNP (classic)rs397515799
ClinGenrs397515799
ebirs397515799
HLIrs397515799
Exacrs397515799
Gnomadrs397515799
Varsomers397515799
LitVarrs397515799
Maprs397515799
PheGenIrs397515799
Biobankrs397515799
1000 genomesrs397515799
hgdprs397515799
ensemblrs397515799
geneviewrs397515799
scholarrs397515799
googlers397515799
pharmgkbrs397515799
gwascentralrs397515799
openSNPrs397515799
23andMers397515799
SNPshotrs397515799
SNPdbers397515799
MSV3drs397515799
GWAS Ctlgrs397515799
Max Magnitude5.5
ClinVar
Risk rs397515799(A;A)
Alt rs397515799(A;A)
Reference Rs397515799(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48766764A>T
CLNSRC ClinVar
CLNACC RCV000035186.2,