rs864621963
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGATGT;GGATGT) | 0 | common/normal |
(I;I) | 0 | common genotype |
(TGGATG;TGGATG) | 0 | common in clinvar |
Make rs864621963(-;-) |
Make rs864621963(-;GGATGT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 75733584 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs864621963 |
dbSNP (classic) | rs864621963 |
ClinGen | rs864621963 |
ebi | rs864621963 |
HLI | rs864621963 |
Exac | rs864621963 |
Gnomad | rs864621963 |
Varsome | rs864621963 |
LitVar | rs864621963 |
Map | rs864621963 |
PheGenI | rs864621963 |
Biobank | rs864621963 |
1000 genomes | rs864621963 |
hgdp | rs864621963 |
ensembl | rs864621963 |
geneview | rs864621963 |
scholar | rs864621963 |
rs864621963 | |
pharmgkb | rs864621963 |
gwascentral | rs864621963 |
openSNP | rs864621963 |
23andMe | rs864621963 |
SNPshot | rs864621963 |
SNPdbe | rs864621963 |
MSV3d | rs864621963 |
GWAS Ctlg | rs864621963 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864621963(-;-) |
Alt | rs864621963(-;-) |
Reference | Rs864621963(TGGATG;TGGATG) |
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.76199269_76199274delGGATGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003776.2, |