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rs193922243

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922243(G;T)
Make rs193922243(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48412564
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922243
ebirs193922243
HLIrs193922243
Exacrs193922243
Varsomers193922243
Maprs193922243
PheGenIrs193922243
hapmaprs193922243
1000 genomesrs193922243
hgdprs193922243
ensemblrs193922243
gopubmedrs193922243
geneviewrs193922243
scholarrs193922243
googlers193922243
pharmgkbrs193922243
gwascentralrs193922243
openSNPrs193922243
23andMers193922243
23andMe allrs193922243
SNP Nexus

SNPshotrs193922243
SNPdbers193922243
MSV3drs193922243
GWAS Ctlgrs193922243
Max Magnitude0
ClinVar
Risk rs193922243(T;T)
Alt rs193922243(T;T)
Reference rs193922243(G;G)
Significance Pathogenic
Disease Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48704761C>A; NC_000015.9:g.48704761C>T
CLNSRC
CLNACC RCV000029790.1, RCV000181629.1,