rs374317179
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs374317179(A;A) |
Make rs374317179(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 134258518 |
Gene | ACAD8 |
is a | snp |
is | mentioned by |
dbSNP | rs374317179 |
dbSNP (classic) | rs374317179 |
ClinGen | rs374317179 |
ebi | rs374317179 |
HLI | rs374317179 |
Exac | rs374317179 |
Gnomad | rs374317179 |
Varsome | rs374317179 |
LitVar | rs374317179 |
Map | rs374317179 |
PheGenI | rs374317179 |
Biobank | rs374317179 |
1000 genomes | rs374317179 |
hgdp | rs374317179 |
ensembl | rs374317179 |
geneview | rs374317179 |
scholar | rs374317179 |
rs374317179 | |
pharmgkb | rs374317179 |
gwascentral | rs374317179 |
openSNP | rs374317179 |
23andMe | rs374317179 |
SNPshot | rs374317179 |
SNPdbe | rs374317179 |
MSV3d | rs374317179 |
GWAS Ctlg | rs374317179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374317179(A;A) |
Alt | rs374317179(A;A) |
Reference | Rs374317179(G;G) |
Significance | Other |
Disease | not provided Deficiency of isobutyryl-CoA dehydrogenase |
Variation | info |
Gene | ACAD8 |
CLNDBN | not provided Deficiency of isobutyryl-CoA dehydrogenase |
Reversed | 0 |
HGVS | NC_000011.9:g.134128412G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081617.4, RCV000384553.1, |