Have questions? Visit https://www.reddit.com/r/SNPedia

rs137854468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854468(A;A)
Make rs137854468(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487396
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854468
ebirs137854468
HLIrs137854468
Exacrs137854468
Varsomers137854468
Maprs137854468
PheGenIrs137854468
hapmaprs137854468
1000 genomesrs137854468
hgdprs137854468
ensemblrs137854468
gopubmedrs137854468
geneviewrs137854468
scholarrs137854468
googlers137854468
pharmgkbrs137854468
gwascentralrs137854468
openSNPrs137854468
23andMers137854468
23andMe allrs137854468
SNP Nexus

SNPshotrs137854468
SNPdbers137854468
MSV3drs137854468
GWAS Ctlgrs137854468
Max Magnitude0
OMIM134797
Desc
Variant0021
Relatedalso
ClinVar
Risk rs137854468(A;A)
Alt rs137854468(A;A)
Reference rs137854468(G;G)
Significance Pathogenic
Disease Marfan syndrome Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome, mild Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48779593C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017905.27, RCV000029725.1,


[PMID 7762551OA-icon.png] A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.


[PMID 8882780] Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.


[PMID 9236141] A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.


[PMID 9404258OA-icon.png] An association between arterial pulse pressure and variation in the fibrillin-1 gene.


[PMID 16571647OA-icon.png] The molecular genetics of Marfan syndrome and related disorders.


[PMID 18423350] Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy.