rs398123080
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398123080(C;C) |
Make rs398123080(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 7223161 |
Gene | ACADVL, MIR324 |
is a | snp |
is | mentioned by |
dbSNP | rs398123080 |
dbSNP (classic) | rs398123080 |
ClinGen | rs398123080 |
ebi | rs398123080 |
HLI | rs398123080 |
Exac | rs398123080 |
Gnomad | rs398123080 |
Varsome | rs398123080 |
LitVar | rs398123080 |
Map | rs398123080 |
PheGenI | rs398123080 |
Biobank | rs398123080 |
1000 genomes | rs398123080 |
hgdp | rs398123080 |
ensembl | rs398123080 |
geneview | rs398123080 |
scholar | rs398123080 |
rs398123080 | |
pharmgkb | rs398123080 |
gwascentral | rs398123080 |
openSNP | rs398123080 |
23andMe | rs398123080 |
SNPshot | rs398123080 |
SNPdbe | rs398123080 |
MSV3d | rs398123080 |
GWAS Ctlg | rs398123080 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123080(C;C) |
Alt | rs398123080(C;C) |
Reference | Rs398123080(T;T) |
Significance | Probable-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.7126480T>C |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000077900.3, RCV000173951.1, |