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rs397515830

From SNPedia

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


Make rs397515830(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position48441765
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515830
dbSNP (classic)rs397515830
ClinGenrs397515830
ebirs397515830
HLIrs397515830
Exacrs397515830
Gnomadrs397515830
Varsomers397515830
LitVarrs397515830
Maprs397515830
PheGenIrs397515830
Biobankrs397515830
1000 genomesrs397515830
hgdprs397515830
ensemblrs397515830
geneviewrs397515830
scholarrs397515830
googlers397515830
pharmgkbrs397515830
gwascentralrs397515830
openSNPrs397515830
23andMers397515830
SNPshotrs397515830
SNPdbers397515830
MSV3drs397515830
GWAS Ctlgrs397515830
Max Magnitude5.5
ClinVar
Risk rs397515830(A;A)
Alt rs397515830(A;A)
Reference Rs397515830(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48733962C>T
CLNSRC ClinVar
CLNACC RCV000035239.2,