rs113887538
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113887538(A;A) |
Make rs113887538(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 75728489 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs113887538 |
dbSNP (classic) | rs113887538 |
ClinGen | rs113887538 |
ebi | rs113887538 |
HLI | rs113887538 |
Exac | rs113887538 |
Gnomad | rs113887538 |
Varsome | rs113887538 |
LitVar | rs113887538 |
Map | rs113887538 |
PheGenI | rs113887538 |
Biobank | rs113887538 |
1000 genomes | rs113887538 |
hgdp | rs113887538 |
ensembl | rs113887538 |
geneview | rs113887538 |
scholar | rs113887538 |
rs113887538 | |
pharmgkb | rs113887538 |
gwascentral | rs113887538 |
openSNP | rs113887538 |
23andMe | rs113887538 |
SNPshot | rs113887538 |
SNPdbe | rs113887538 |
MSV3d | rs113887538 |
GWAS Ctlg | rs113887538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113887538(A;A) rs113887538(T;T) |
Alt | rs113887538(A;A) rs113887538(T;T) |
Reference | Rs113887538(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.76194174G>T |
CLNSRC | |
CLNACC | RCV000410407.1, |