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rs111401431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111401431(C;T)
Make rs111401431(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48468097
GeneFBN1
is asnp
is mentioned by
dbSNPrs111401431
ebirs111401431
HLIrs111401431
Exacrs111401431
Varsomers111401431
Maprs111401431
PheGenIrs111401431
hapmaprs111401431
1000 genomesrs111401431
hgdprs111401431
ensemblrs111401431
gopubmedrs111401431
geneviewrs111401431
scholarrs111401431
googlers111401431
pharmgkbrs111401431
gwascentralrs111401431
openSNPrs111401431
23andMers111401431
23andMe allrs111401431
SNP Nexus

SNPshotrs111401431
SNPdbers111401431
MSV3drs111401431
GWAS Ctlgrs111401431
Max Magnitude0
ClinVar
Risk rs111401431(T;T)
Alt rs111401431(T;T)
Reference rs111401431(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48760294G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029740.3,


[PMID 19941] Cerebral hemodynamic and metabolic alterations in hypovolemic shock.


[PMID 15054843] Ectopia lentis phenotypes and the FBN1 gene.


[PMID 17253931] Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.


[PMID 17663468] Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.


[PMID 18615205OA-icon.png] Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.


[PMID 19863550] Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.