rs1057516480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057516480(-;-) |
Make rs1057516480(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 75732860 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs1057516480 |
dbSNP (classic) | rs1057516480 |
ClinGen | rs1057516480 |
ebi | rs1057516480 |
HLI | rs1057516480 |
Exac | rs1057516480 |
Gnomad | rs1057516480 |
Varsome | rs1057516480 |
LitVar | rs1057516480 |
Map | rs1057516480 |
PheGenI | rs1057516480 |
Biobank | rs1057516480 |
1000 genomes | rs1057516480 |
hgdp | rs1057516480 |
ensembl | rs1057516480 |
geneview | rs1057516480 |
scholar | rs1057516480 |
rs1057516480 | |
pharmgkb | rs1057516480 |
gwascentral | rs1057516480 |
openSNP | rs1057516480 |
23andMe | rs1057516480 |
SNPshot | rs1057516480 |
SNPdbe | rs1057516480 |
MSV3d | rs1057516480 |
GWAS Ctlg | rs1057516480 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516480(-;-) |
Alt | rs1057516480(-;-) |
Reference | Rs1057516480(T;T) |
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.76198545delT |
CLNSRC | |
CLNACC | RCV000409619.1, |