rs113871094
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Marfan syndrome mutation |
Make rs113871094(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48465820 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs113871094 |
dbSNP (classic) | rs113871094 |
ClinGen | rs113871094 |
ebi | rs113871094 |
HLI | rs113871094 |
Exac | rs113871094 |
Gnomad | rs113871094 |
Varsome | rs113871094 |
LitVar | rs113871094 |
Map | rs113871094 |
PheGenI | rs113871094 |
Biobank | rs113871094 |
1000 genomes | rs113871094 |
hgdp | rs113871094 |
ensembl | rs113871094 |
geneview | rs113871094 |
scholar | rs113871094 |
rs113871094 | |
pharmgkb | rs113871094 |
gwascentral | rs113871094 |
openSNP | rs113871094 |
23andMe | rs113871094 |
SNPshot | rs113871094 |
SNPdbe | rs113871094 |
MSV3d | rs113871094 |
GWAS Ctlg | rs113871094 |
Max Magnitude | 6 |
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 | RCV000029744.4, RCV000181534.4, |
[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.