rs193922243
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(G;G) | 0 | common in clinvar |
Make rs193922243(G;T) |
Make rs193922243(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48412564 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922243 |
dbSNP (classic) | rs193922243 |
ClinGen | rs193922243 |
ebi | rs193922243 |
HLI | rs193922243 |
Exac | rs193922243 |
Gnomad | rs193922243 |
Varsome | rs193922243 |
LitVar | rs193922243 |
Map | rs193922243 |
PheGenI | rs193922243 |
Biobank | rs193922243 |
1000 genomes | rs193922243 |
hgdp | rs193922243 |
ensembl | rs193922243 |
geneview | rs193922243 |
scholar | rs193922243 |
rs193922243 | |
pharmgkb | rs193922243 |
gwascentral | rs193922243 |
openSNP | rs193922243 |
23andMe | rs193922243 |
SNPshot | rs193922243 |
SNPdbe | rs193922243 |
MSV3d | rs193922243 |
GWAS Ctlg | rs193922243 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs193922243(A;A) rs193922243(T;T) |
Alt | rs193922243(A;A) rs193922243(T;T) |
Reference | Rs193922243(G;G) |
Significance | Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48704761C>A |
CLNSRC | |
CLNACC | RCV000029790.1, |