rs201375579
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201375579(A;G) |
Make rs201375579(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 75749507 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs201375579 |
dbSNP (classic) | rs201375579 |
ClinGen | rs201375579 |
ebi | rs201375579 |
HLI | rs201375579 |
Exac | rs201375579 |
Gnomad | rs201375579 |
Varsome | rs201375579 |
LitVar | rs201375579 |
Map | rs201375579 |
PheGenI | rs201375579 |
Biobank | rs201375579 |
1000 genomes | rs201375579 |
hgdp | rs201375579 |
ensembl | rs201375579 |
geneview | rs201375579 |
scholar | rs201375579 |
rs201375579 | |
pharmgkb | rs201375579 |
gwascentral | rs201375579 |
openSNP | rs201375579 |
23andMe | rs201375579 |
SNPshot | rs201375579 |
SNPdbe | rs201375579 |
MSV3d | rs201375579 |
GWAS Ctlg | rs201375579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201375579(G;G) |
Alt | rs201375579(G;G) |
Reference | Rs201375579(A;A) |
Significance | Pathogenic |
Disease | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | ACADM |
CLNDBN | not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76215192A>G |
CLNSRC | |
CLNACC | RCV000185664.3, RCV000211538.1, |