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rs397515755

From SNPedia

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


Make rs397515755(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position48520711
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515755
dbSNP (classic)rs397515755
ClinGenrs397515755
ebirs397515755
HLIrs397515755
Exacrs397515755
Gnomadrs397515755
Varsomers397515755
LitVarrs397515755
Maprs397515755
PheGenIrs397515755
Biobankrs397515755
1000 genomesrs397515755
hgdprs397515755
ensemblrs397515755
geneviewrs397515755
scholarrs397515755
googlers397515755
pharmgkbrs397515755
gwascentralrs397515755
openSNPrs397515755
23andMers397515755
SNPshotrs397515755
SNPdbers397515755
MSV3drs397515755
GWAS Ctlgrs397515755
Max Magnitude5.5
ClinVar
Risk rs397515755(A;A)
Alt rs397515755(A;A)
Reference Rs397515755(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48812908G>T
CLNSRC ClinVar
CLNACC RCV000035115.3,