rs748110745
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748110745(G;T) |
Make rs748110745(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 75761326 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs748110745 |
dbSNP (classic) | rs748110745 |
ClinGen | rs748110745 |
ebi | rs748110745 |
HLI | rs748110745 |
Exac | rs748110745 |
Gnomad | rs748110745 |
Varsome | rs748110745 |
LitVar | rs748110745 |
Map | rs748110745 |
PheGenI | rs748110745 |
Biobank | rs748110745 |
1000 genomes | rs748110745 |
hgdp | rs748110745 |
ensembl | rs748110745 |
geneview | rs748110745 |
scholar | rs748110745 |
rs748110745 | |
pharmgkb | rs748110745 |
gwascentral | rs748110745 |
openSNP | rs748110745 |
23andMe | rs748110745 |
SNPshot | rs748110745 |
SNPdbe | rs748110745 |
MSV3d | rs748110745 |
GWAS Ctlg | rs748110745 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748110745(T;T) |
Alt | rs748110745(T;T) |
Reference | Rs748110745(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.76227011G>T |
CLNSRC | |
CLNACC | RCV000411952.1, |