rs140593
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140593(A;A) |
Make rs140593(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48489896 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs140593 |
dbSNP (classic) | rs140593 |
ClinGen | rs140593 |
ebi | rs140593 |
HLI | rs140593 |
Exac | rs140593 |
Gnomad | rs140593 |
Varsome | rs140593 |
LitVar | rs140593 |
Map | rs140593 |
PheGenI | rs140593 |
Biobank | rs140593 |
1000 genomes | rs140593 |
hgdp | rs140593 |
ensembl | rs140593 |
geneview | rs140593 |
scholar | rs140593 |
rs140593 | |
pharmgkb | rs140593 |
gwascentral | rs140593 |
openSNP | rs140593 |
23andMe | rs140593 |
SNPshot | rs140593 |
SNPdbe | rs140593 |
MSV3d | rs140593 |
GWAS Ctlg | rs140593 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs140593(A;A) rs140593(C;C) |
Alt | rs140593(A;A) rs140593(C;C) |
Reference | Rs140593(G;G) |
Significance | Pathogenic |
Disease | Marfan syndrome not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48782093C>G; NC_000015.9:g.48782093C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017918.27, RCV000154235.3, RCV000181476.2, |