rs58639322
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
Make rs58639322(C;T) |
Make rs58639322(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 123040605 |
Gene | ACADSB |
is a | snp |
is | mentioned by |
dbSNP | rs58639322 |
dbSNP (classic) | rs58639322 |
ClinGen | rs58639322 |
ebi | rs58639322 |
HLI | rs58639322 |
Exac | rs58639322 |
Gnomad | rs58639322 |
Varsome | rs58639322 |
LitVar | rs58639322 |
Map | rs58639322 |
PheGenI | rs58639322 |
Biobank | rs58639322 |
1000 genomes | rs58639322 |
hgdp | rs58639322 |
ensembl | rs58639322 |
geneview | rs58639322 |
scholar | rs58639322 |
rs58639322 | |
pharmgkb | rs58639322 |
gwascentral | rs58639322 |
openSNP | rs58639322 |
23andMe | rs58639322 |
SNPshot | rs58639322 |
SNPdbe | rs58639322 |
MSV3d | rs58639322 |
GWAS Ctlg | rs58639322 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58639322(T;T) |
Alt | rs58639322(T;T) |
Reference | Rs58639322(C;C) |
Significance | Pathogenic |
Disease | Deficiency of 2-methylbutyryl-CoA dehydrogenase not specified |
Variation | info |
Gene | ACADSB |
CLNDBN | Deficiency of 2-methylbutyryl-CoA dehydrogenase not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.124800121C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009780.4, RCV000389934.1, |