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rs137854480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854480(C;T)
Make rs137854480(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48537629
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854480
ebirs137854480
HLIrs137854480
Exacrs137854480
Varsomers137854480
Maprs137854480
PheGenIrs137854480
hapmaprs137854480
1000 genomesrs137854480
hgdprs137854480
ensemblrs137854480
gopubmedrs137854480
geneviewrs137854480
scholarrs137854480
googlers137854480
pharmgkbrs137854480
gwascentralrs137854480
openSNPrs137854480
23andMers137854480
23andMe allrs137854480
SNP Nexus

SNPshotrs137854480
SNPdbers137854480
MSV3drs137854480
GWAS Ctlgrs137854480
Max Magnitude0
OMIM134797
Desc
Variant0042
Relatedalso
ClinVar
Risk rs137854480(T;T)
Alt rs137854480(T;T)
Reference rs137854480(C;C)
Significance Pathogenic
Disease Marfan syndrome Ectopia lentis not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome Ectopia lentis, isolated, autosomal dominant not provided
Reversed 1
HGVS NC_000015.9:g.48829826G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017924.30, RCV000017925.28, RCV000181681.1,


[PMID 12203] 13C NMR studies of ferrous citrates in acidic and alkaline solutions. Implications concerning the active site of aconitase.

[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 17657824] The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

[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.