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rs137854466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854466(C;T)
Make rs137854466(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48411280
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854466
ebirs137854466
HLIrs137854466
Exacrs137854466
Varsomers137854466
Maprs137854466
PheGenIrs137854466
hapmaprs137854466
1000 genomesrs137854466
hgdprs137854466
ensemblrs137854466
gopubmedrs137854466
geneviewrs137854466
scholarrs137854466
googlers137854466
pharmgkbrs137854466
gwascentralrs137854466
openSNPrs137854466
23andMers137854466
23andMe allrs137854466
SNP Nexus

SNPshotrs137854466
SNPdbers137854466
MSV3drs137854466
GWAS Ctlgrs137854466
Max Magnitude0
OMIM134797
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137854466(G,T;G,T)
Alt rs137854466(G,T;G,T)
Reference rs137854466(C;C)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48703477G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017901.29, RCV000181630.2,


[PMID 8541880] Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.


[PMID 8791520] Fibrillln mutations in Marfan syndrome and related phenotypes.


[PMID 9817919] Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.


[PMID 10756346] Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.


[PMID 11143906] Marfan syndrome and fibrillin disorders.


[PMID 11826022OA-icon.png] Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.