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rs137854467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854467(C;T)
Make rs137854467(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48600217
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854467
ebirs137854467
HLIrs137854467
Exacrs137854467
Varsomers137854467
Maprs137854467
PheGenIrs137854467
hapmaprs137854467
1000 genomesrs137854467
hgdprs137854467
ensemblrs137854467
gopubmedrs137854467
geneviewrs137854467
scholarrs137854467
googlers137854467
pharmgkbrs137854467
gwascentralrs137854467
openSNPrs137854467
23andMers137854467
23andMe allrs137854467
SNP Nexus

SNPshotrs137854467
SNPdbers137854467
MSV3drs137854467
GWAS Ctlgrs137854467
Max Magnitude0
OMIM134797
Desc
Variant0018
Relatedalso
ClinVar
Risk rs137854467(T;T)
Alt rs137854467(T;T)
Reference rs137854467(C;C)
Significance Pathogenic
Disease Marfan syndrome Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome, atypical Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48892414G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017902.27, RCV000029732.1, RCV000181647.2,


[PMID 17657] Base-catalyzed reactions of 1,3-disubstituted uracils.


[PMID 12446365OA-icon.png] Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.


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


[PMID 18087243] Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.


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


[PMID 19328768] Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.