rs121434282
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 5 | Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
(C;G) | 3 | Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 75749552 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs121434282 |
dbSNP (classic) | rs121434282 |
ClinGen | rs121434282 |
ebi | rs121434282 |
HLI | rs121434282 |
Exac | rs121434282 |
Gnomad | rs121434282 |
Varsome | rs121434282 |
LitVar | rs121434282 |
Map | rs121434282 |
PheGenI | rs121434282 |
Biobank | rs121434282 |
1000 genomes | rs121434282 |
hgdp | rs121434282 |
ensembl | rs121434282 |
geneview | rs121434282 |
scholar | rs121434282 |
rs121434282 | |
pharmgkb | rs121434282 |
gwascentral | rs121434282 |
openSNP | rs121434282 |
23andMe | rs121434282 |
SNPshot | rs121434282 |
SNPdbe | rs121434282 |
MSV3d | rs121434282 |
GWAS Ctlg | rs121434282 |
Max Magnitude | 5 |
aka c.842G>C (p.Arg281Thr)
23andMe name: i5003116
ClinVar | |
---|---|
Risk | Rs121434282(C;C) |
Alt | Rs121434282(C;C) |
Reference | Rs121434282(G;G) |
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.76215237G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003779.2, |