rs796051896
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796051896(C;G) |
Make rs796051896(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 75761188 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs796051896 |
dbSNP (classic) | rs796051896 |
ClinGen | rs796051896 |
ebi | rs796051896 |
HLI | rs796051896 |
Exac | rs796051896 |
Gnomad | rs796051896 |
Varsome | rs796051896 |
LitVar | rs796051896 |
Map | rs796051896 |
PheGenI | rs796051896 |
Biobank | rs796051896 |
1000 genomes | rs796051896 |
hgdp | rs796051896 |
ensembl | rs796051896 |
geneview | rs796051896 |
scholar | rs796051896 |
rs796051896 | |
pharmgkb | rs796051896 |
gwascentral | rs796051896 |
openSNP | rs796051896 |
23andMe | rs796051896 |
SNPshot | rs796051896 |
SNPdbe | rs796051896 |
MSV3d | rs796051896 |
GWAS Ctlg | rs796051896 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051896(G;G) rs796051896(T;T) |
Alt | rs796051896(G;G) rs796051896(T;T) |
Reference | Rs796051896(C;C) |
Significance | Pathogenic |
Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | ACADM |
CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76226873C>T |
CLNSRC | |
CLNACC | RCV000211507.1, |