rs762114560
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs762114560(C;T) |
Make rs762114560(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 75732886 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs762114560 |
dbSNP (classic) | rs762114560 |
ClinGen | rs762114560 |
ebi | rs762114560 |
HLI | rs762114560 |
Exac | rs762114560 |
Gnomad | rs762114560 |
Varsome | rs762114560 |
LitVar | rs762114560 |
Map | rs762114560 |
PheGenI | rs762114560 |
Biobank | rs762114560 |
1000 genomes | rs762114560 |
hgdp | rs762114560 |
ensembl | rs762114560 |
geneview | rs762114560 |
scholar | rs762114560 |
rs762114560 | |
pharmgkb | rs762114560 |
gwascentral | rs762114560 |
openSNP | rs762114560 |
23andMe | rs762114560 |
SNPshot | rs762114560 |
SNPdbe | rs762114560 |
MSV3d | rs762114560 |
GWAS Ctlg | rs762114560 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762114560(T;T) |
Alt | rs762114560(T;T) |
Reference | Rs762114560(C;C) |
Significance | Pathogenic |
Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Variation | info |
Gene | ACADM |
CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.76198571C>T |
CLNSRC | |
CLNACC | RCV000211459.1, RCV000432899.1, |