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rs113871094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113871094(C;T)
Make rs113871094(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48465820
GeneFBN1
is asnp
is mentioned by
dbSNPrs113871094
ebirs113871094
HLIrs113871094
Exacrs113871094
Varsomers113871094
Maprs113871094
PheGenIrs113871094
hapmaprs113871094
1000 genomesrs113871094
hgdprs113871094
ensemblrs113871094
gopubmedrs113871094
geneviewrs113871094
scholarrs113871094
googlers113871094
pharmgkbrs113871094
gwascentralrs113871094
openSNPrs113871094
23andMers113871094
23andMe allrs113871094
SNP Nexus

SNPshotrs113871094
SNPdbers113871094
MSV3drs113871094
GWAS Ctlgrs113871094
Max Magnitude0
ClinVar
Risk rs113871094(T;T)
Alt rs113871094(T;T)
Reference rs113871094(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.48758017G>A
CLNSRC ClinVar
CLNACC RCV000029744.3, RCV000181534.2,


[PMID 15241] Population policy 1977: a reexamination of the issues.


[PMID 11700157] Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.


[PMID 11933199] Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.


[PMID 16756980] Preimplantation genetic diagnosis for Marfan syndrome.


[PMID 17718856] Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.


[PMID 19618372] Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.