rs112406105
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs112406105(C;C) |
Make rs112406105(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 7223152 |
Gene | ACADVL, MIR324 |
is a | snp |
is | mentioned by |
dbSNP | rs112406105 |
dbSNP (classic) | rs112406105 |
ClinGen | rs112406105 |
ebi | rs112406105 |
HLI | rs112406105 |
Exac | rs112406105 |
Gnomad | rs112406105 |
Varsome | rs112406105 |
LitVar | rs112406105 |
Map | rs112406105 |
PheGenI | rs112406105 |
Biobank | rs112406105 |
1000 genomes | rs112406105 |
hgdp | rs112406105 |
ensembl | rs112406105 |
geneview | rs112406105 |
scholar | rs112406105 |
rs112406105 | |
pharmgkb | rs112406105 |
gwascentral | rs112406105 |
openSNP | rs112406105 |
23andMe | rs112406105 |
SNPshot | rs112406105 |
SNPdbe | rs112406105 |
MSV3d | rs112406105 |
GWAS Ctlg | rs112406105 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112406105(A;A) rs112406105(C;C) |
Alt | rs112406105(A;A) rs112406105(C;C) |
Reference | Rs112406105(G;G) |
Significance | Pathogenic |
Disease | not provided Very long chain acyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | MIR324 ACADVL |
CLNDBN | not provided Very long chain acyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000017.10:g.7126471G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000185720.2, RCV000411732.1, |