rs875989865
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCCAACATGGCA;GCCAACATGGCA) | 0 | common in clinvar |
Chromosome | 1 |
Position | 75724782 |
Gene | ACADM, SLC44A5 |
is a | snp |
is | mentioned by |
dbSNP | rs875989865 |
dbSNP (classic) | rs875989865 |
ClinGen | rs875989865 |
ebi | rs875989865 |
HLI | rs875989865 |
Exac | rs875989865 |
Gnomad | rs875989865 |
Varsome | rs875989865 |
LitVar | rs875989865 |
Map | rs875989865 |
PheGenI | rs875989865 |
Biobank | rs875989865 |
1000 genomes | rs875989865 |
hgdp | rs875989865 |
ensembl | rs875989865 |
geneview | rs875989865 |
scholar | rs875989865 |
rs875989865 | |
pharmgkb | rs875989865 |
gwascentral | rs875989865 |
openSNP | rs875989865 |
23andMe | rs875989865 |
SNPshot | rs875989865 |
SNPdbe | rs875989865 |
MSV3d | rs875989865 |
GWAS Ctlg | rs875989865 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989865(ACCCCGAAGG;ACCCCGAAGG) |
Alt | rs875989865(ACCCCGAAGG;ACCCCGAAGG) |
Reference | Rs875989865(GCCAACATGGCA;GCCAACATGGCA) |
Significance | 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.76190467_76190478delGCCAACATGGCAinsACCCCGAAGG |
CLNSRC | |
CLNACC | RCV000211504.1, |