rs866388216
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs866388216(A;A) |
Make rs866388216(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 75740111 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs866388216 |
dbSNP (classic) | rs866388216 |
ClinGen | rs866388216 |
ebi | rs866388216 |
HLI | rs866388216 |
Exac | rs866388216 |
Gnomad | rs866388216 |
Varsome | rs866388216 |
LitVar | rs866388216 |
Map | rs866388216 |
PheGenI | rs866388216 |
Biobank | rs866388216 |
1000 genomes | rs866388216 |
hgdp | rs866388216 |
ensembl | rs866388216 |
geneview | rs866388216 |
scholar | rs866388216 |
rs866388216 | |
pharmgkb | rs866388216 |
gwascentral | rs866388216 |
openSNP | rs866388216 |
23andMe | rs866388216 |
SNPshot | rs866388216 |
SNPdbe | rs866388216 |
MSV3d | rs866388216 |
GWAS Ctlg | rs866388216 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs866388216(A;A) |
Alt | rs866388216(A;A) |
Reference | Rs866388216(G;G) |
Significance | Probable-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.76205796G>A |
CLNSRC | |
CLNACC | RCV000211443.1, |