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rs193922240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922240(C;C)
Make rs193922240(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48415689
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922240
ebirs193922240
HLIrs193922240
Exacrs193922240
Varsomers193922240
Maprs193922240
PheGenIrs193922240
hapmaprs193922240
1000 genomesrs193922240
hgdprs193922240
ensemblrs193922240
gopubmedrs193922240
geneviewrs193922240
scholarrs193922240
googlers193922240
pharmgkbrs193922240
gwascentralrs193922240
openSNPrs193922240
23andMers193922240
23andMe allrs193922240
SNP Nexus

SNPshotrs193922240
SNPdbers193922240
MSV3drs193922240
GWAS Ctlgrs193922240
Max Magnitude0
ClinVar
Risk rs193922240(C;C)
Alt rs193922240(C;C)
Reference rs193922240(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48707886C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029785.1,