rs11559290
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11559290(C;T) |
Make rs11559290(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 158680524 |
Gene | ETFDH |
is a | snp |
is | mentioned by |
dbSNP | rs11559290 |
dbSNP (classic) | rs11559290 |
ClinGen | rs11559290 |
ebi | rs11559290 |
HLI | rs11559290 |
Exac | rs11559290 |
Gnomad | rs11559290 |
Varsome | rs11559290 |
LitVar | rs11559290 |
Map | rs11559290 |
PheGenI | rs11559290 |
Biobank | rs11559290 |
1000 genomes | rs11559290 |
hgdp | rs11559290 |
ensembl | rs11559290 |
geneview | rs11559290 |
scholar | rs11559290 |
rs11559290 | |
pharmgkb | rs11559290 |
gwascentral | rs11559290 |
openSNP | rs11559290 |
23andMe | rs11559290 |
SNPshot | rs11559290 |
SNPdbe | rs11559290 |
MSV3d | rs11559290 |
GWAS Ctlg | rs11559290 |
GMAF | 0.2773 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11559290(T;T) |
Alt | rs11559290(T;T) |
Reference | Rs11559290(C;C) |
Significance | Non-pathogenic |
Disease | not specified Glutaric aciduria |
Variation | info |
Gene | ETFDH |
CLNDBN | not specified Glutaric aciduria, type 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.159601676C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081080.4, RCV000355141.1, |