rs1057516385
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516385(-;-) |
Make rs1057516385(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 120737090 |
Gene | ACADS |
is a | snp |
is | mentioned by |
dbSNP | rs1057516385 |
dbSNP (classic) | rs1057516385 |
ClinGen | rs1057516385 |
ebi | rs1057516385 |
HLI | rs1057516385 |
Exac | rs1057516385 |
Gnomad | rs1057516385 |
Varsome | rs1057516385 |
LitVar | rs1057516385 |
Map | rs1057516385 |
PheGenI | rs1057516385 |
Biobank | rs1057516385 |
1000 genomes | rs1057516385 |
hgdp | rs1057516385 |
ensembl | rs1057516385 |
geneview | rs1057516385 |
scholar | rs1057516385 |
rs1057516385 | |
pharmgkb | rs1057516385 |
gwascentral | rs1057516385 |
openSNP | rs1057516385 |
23andMe | rs1057516385 |
SNPshot | rs1057516385 |
SNPdbe | rs1057516385 |
MSV3d | rs1057516385 |
GWAS Ctlg | rs1057516385 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516385(-;-) |
Alt | rs1057516385(-;-) |
Reference | Rs1057516385(C;C) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyryl-CoA dehydrogenase |
Variation | info |
Gene | ACADS |
CLNDBN | Deficiency of butyryl-CoA dehydrogenase |
Reversed | 0 |
HGVS | NC_000012.11:g.121174893delC |
CLNSRC | |
CLNACC | RCV000411417.1, |