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rs140593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140593(A;A)
Make rs140593(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48489896
GeneFBN1
is asnp
is mentioned by
dbSNPrs140593
ebirs140593
HLIrs140593
Exacrs140593
Varsomers140593
Maprs140593
PheGenIrs140593
hapmaprs140593
1000 genomesrs140593
hgdprs140593
ensemblrs140593
gopubmedrs140593
geneviewrs140593
scholarrs140593
googlers140593
pharmgkbrs140593
gwascentralrs140593
openSNPrs140593
23andMers140593
23andMe allrs140593
SNP Nexus

SNPshotrs140593
SNPdbers140593
MSV3drs140593
GWAS Ctlgrs140593
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM134797
Desc
Variant0036
Relatedalso
ClinVar
Risk rs140593(A,C;A,C)
Alt rs140593(A,C;A,C)
Reference rs140593(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.48782093C>G; NC_000015.9:g.48782093C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017918.27, RCV000154235.3, RCV000181476.1,