rs200724875
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
(A;G) | 3 | Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 75745823 |
Gene | ACADM, DLSTP1 |
is a | snp |
is | mentioned by |
dbSNP | rs200724875 |
dbSNP (classic) | rs200724875 |
ClinGen | rs200724875 |
ebi | rs200724875 |
HLI | rs200724875 |
Exac | rs200724875 |
Gnomad | rs200724875 |
Varsome | rs200724875 |
LitVar | rs200724875 |
Map | rs200724875 |
PheGenI | rs200724875 |
Biobank | rs200724875 |
1000 genomes | rs200724875 |
hgdp | rs200724875 |
ensembl | rs200724875 |
geneview | rs200724875 |
scholar | rs200724875 |
rs200724875 | |
pharmgkb | rs200724875 |
gwascentral | rs200724875 |
openSNP | rs200724875 |
23andMe | rs200724875 |
SNPshot | rs200724875 |
SNPdbe | rs200724875 |
MSV3d | rs200724875 |
GWAS Ctlg | rs200724875 |
Max Magnitude | 5 |
aka c.617G>A (p.Arg206His)
23andMe name: i5012761
ClinVar | |
---|---|
Risk | Rs200724875(A;A) |
Alt | Rs200724875(A;A) |
Reference | Rs200724875(G;G) |
Significance | Pathogenic |
Disease | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | DLSTP1 ACADM |
CLNDBN | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76211508G>A |
CLNSRC | HGMD |
CLNACC | RCV000077893.3, RCV000180088.1, |