rs761317029
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs761317029(A;G) |
Make rs761317029(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 75750449 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs761317029 |
dbSNP (classic) | rs761317029 |
ClinGen | rs761317029 |
ebi | rs761317029 |
HLI | rs761317029 |
Exac | rs761317029 |
Gnomad | rs761317029 |
Varsome | rs761317029 |
LitVar | rs761317029 |
Map | rs761317029 |
PheGenI | rs761317029 |
Biobank | rs761317029 |
1000 genomes | rs761317029 |
hgdp | rs761317029 |
ensembl | rs761317029 |
geneview | rs761317029 |
scholar | rs761317029 |
rs761317029 | |
pharmgkb | rs761317029 |
gwascentral | rs761317029 |
openSNP | rs761317029 |
23andMe | rs761317029 |
SNPshot | rs761317029 |
SNPdbe | rs761317029 |
MSV3d | rs761317029 |
GWAS Ctlg | rs761317029 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761317029(G;G) |
Alt | rs761317029(G;G) |
Reference | Rs761317029(A;A) |
Significance | Probable-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.76216134A>G |
CLNSRC | Counsyl |
CLNACC | RCV000169062.1, |