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rs140603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140603(C;T)
Make rs140603(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48503845
GeneFBN1
is asnp
is mentioned by
dbSNPrs140603
ebirs140603
HLIrs140603
Exacrs140603
Varsomers140603
Maprs140603
PheGenIrs140603
hapmaprs140603
1000 genomesrs140603
hgdprs140603
ensemblrs140603
gopubmedrs140603
geneviewrs140603
scholarrs140603
googlers140603
pharmgkbrs140603
gwascentralrs140603
openSNPrs140603
23andMers140603
23andMe allrs140603
SNP Nexus

SNPshotrs140603
SNPdbers140603
MSV3drs140603
GWAS Ctlgrs140603
GMAF0.002755
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs140603(G,T;G,T)
Alt rs140603(G,T;G,T)
Reference rs140603(C;C)
Significance Pathogenic
Disease Marfan syndrome not specified not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not specified not provided
Reversed 1
HGVS NC_000015.9:g.48796042G>A; NC_000015.9:g.48796042G>C; NC_000015.9:g.48796042G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029704.1, RCV000181397.1, RCV000029703.5, RCV000181443.1,



[PMID 12203992] TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.


[PMID 12938084] Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.


[PMID 15241795] Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.


[PMID 16342915] Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.