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rs397515778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs397515778(C;C)
Make rs397515778(C;GG)
ReferenceGRCh38 38.1/141
Chromosome15
Position48610805
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515778
ebirs397515778
HLIrs397515778
Exacrs397515778
Varsomers397515778
Maprs397515778
PheGenIrs397515778
hapmaprs397515778
1000 genomesrs397515778
hgdprs397515778
ensemblrs397515778
gopubmedrs397515778
geneviewrs397515778
scholarrs397515778
googlers397515778
pharmgkbrs397515778
gwascentralrs397515778
openSNPrs397515778
23andMers397515778
23andMe allrs397515778
SNP Nexus

SNPshotrs397515778
SNPdbers397515778
MSV3drs397515778
GWAS Ctlgrs397515778
Max Magnitude0
ClinVar
Risk rs397515778(C;C)
Alt rs397515778(C;C)
Reference rs397515778(GG;GG)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48903002_48903003delCCinsG
CLNSRC ClinVar
CLNACC RCV000035148.2,