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rs111671429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111671429(C;T)
Make rs111671429(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48596311
GeneFBN1
is asnp
is mentioned by
dbSNPrs111671429
ebirs111671429
HLIrs111671429
Exacrs111671429
Varsomers111671429
Maprs111671429
PheGenIrs111671429
hapmaprs111671429
1000 genomesrs111671429
hgdprs111671429
ensemblrs111671429
gopubmedrs111671429
geneviewrs111671429
scholarrs111671429
googlers111671429
pharmgkbrs111671429
gwascentralrs111671429
openSNPrs111671429
23andMers111671429
23andMe allrs111671429
SNP Nexus

SNPshotrs111671429
SNPdbers111671429
MSV3drs111671429
GWAS Ctlgrs111671429
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs111671429(G,T;G,T)
Alt rs111671429(G,T;G,T)
Reference rs111671429(C;C)
Significance Other
Disease Marfan syndrome not specified
Variation info
Gene FBN1
CLNDBN Marfan syndrome not specified
Reversed 1
HGVS NC_000015.9:g.48888508G>A; NC_000015.9:g.48888508G>C
CLNSRC ClinVar GeneDx LabCorp
CLNACC RCV000029748.1, RCV000035220.3, RCV000029747.1,


[PMID 14695540] Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.


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


[PMID 10647894] Molecular analysis of eight mutations in FBN1.


[PMID 12161601OA-icon.png] Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.