rs193922204
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922204(A;A) |
Make rs193922204(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48468542 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922204 |
dbSNP (classic) | rs193922204 |
ClinGen | rs193922204 |
ebi | rs193922204 |
HLI | rs193922204 |
Exac | rs193922204 |
Gnomad | rs193922204 |
Varsome | rs193922204 |
LitVar | rs193922204 |
Map | rs193922204 |
PheGenI | rs193922204 |
Biobank | rs193922204 |
1000 genomes | rs193922204 |
hgdp | rs193922204 |
ensembl | rs193922204 |
geneview | rs193922204 |
scholar | rs193922204 |
rs193922204 | |
pharmgkb | rs193922204 |
gwascentral | rs193922204 |
openSNP | rs193922204 |
23andMe | rs193922204 |
SNPshot | rs193922204 |
SNPdbe | rs193922204 |
MSV3d | rs193922204 |
GWAS Ctlg | rs193922204 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922204(A;A) |
Alt | rs193922204(A;A) |
Reference | Rs193922204(G;G) |
Significance | Other |
Disease | Marfan syndrome not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48760739C>T |
CLNSRC | ClinVar |
CLNACC | RCV000029737.1, RCV000429823.1, |
[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 15241795] Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.