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rs397515835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs397515835(AG;AG)
Make rs397515835(AG;CT)
ReferenceGRCh38 38.1/141
Chromosome15
Position48432996
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515835
ebirs397515835
HLIrs397515835
Exacrs397515835
Varsomers397515835
Maprs397515835
PheGenIrs397515835
hapmaprs397515835
1000 genomesrs397515835
hgdprs397515835
ensemblrs397515835
gopubmedrs397515835
geneviewrs397515835
scholarrs397515835
googlers397515835
pharmgkbrs397515835
gwascentralrs397515835
openSNPrs397515835
23andMers397515835
23andMe allrs397515835
SNP Nexus

SNPshotrs397515835
SNPdbers397515835
MSV3drs397515835
GWAS Ctlgrs397515835
Max Magnitude0
ClinVar
Risk rs397515835(AG;AG)
Alt rs397515835(AG;AG)
Reference rs397515835(CT;CT)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48725193_48725194delAGinsCT
CLNSRC ClinVar
CLNACC RCV000035247.2,