rs147103714
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147103714(G;T) |
Make rs147103714(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 26238957 |
Gene | HADHA |
is a | snp |
is | mentioned by |
dbSNP | rs147103714 |
dbSNP (classic) | rs147103714 |
ClinGen | rs147103714 |
ebi | rs147103714 |
HLI | rs147103714 |
Exac | rs147103714 |
Gnomad | rs147103714 |
Varsome | rs147103714 |
LitVar | rs147103714 |
Map | rs147103714 |
PheGenI | rs147103714 |
Biobank | rs147103714 |
1000 genomes | rs147103714 |
hgdp | rs147103714 |
ensembl | rs147103714 |
geneview | rs147103714 |
scholar | rs147103714 |
rs147103714 | |
pharmgkb | rs147103714 |
gwascentral | rs147103714 |
openSNP | rs147103714 |
23andMe | rs147103714 |
SNPshot | rs147103714 |
SNPdbe | rs147103714 |
MSV3d | rs147103714 |
GWAS Ctlg | rs147103714 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147103714(A;A) rs147103714(T;T) |
Alt | rs147103714(A;A) rs147103714(T;T) |
Reference | Rs147103714(G;G) |
Significance | Pathogenic |
Disease | not provided Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
Variation | info |
Gene | HADHA |
CLNDBN | not provided Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.26461825G>A |
CLNSRC | HGMD |
CLNACC | RCV000078334.5, RCV000177002.1, RCV000177003.1, |