rs751829413
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs751829413(A;C) |
Make rs751829413(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 75745815 |
Gene | ACADM, DLSTP1 |
is a | snp |
is | mentioned by |
dbSNP | rs751829413 |
dbSNP (classic) | rs751829413 |
ClinGen | rs751829413 |
ebi | rs751829413 |
HLI | rs751829413 |
Exac | rs751829413 |
Gnomad | rs751829413 |
Varsome | rs751829413 |
LitVar | rs751829413 |
Map | rs751829413 |
PheGenI | rs751829413 |
Biobank | rs751829413 |
1000 genomes | rs751829413 |
hgdp | rs751829413 |
ensembl | rs751829413 |
geneview | rs751829413 |
scholar | rs751829413 |
rs751829413 | |
pharmgkb | rs751829413 |
gwascentral | rs751829413 |
openSNP | rs751829413 |
23andMe | rs751829413 |
SNPshot | rs751829413 |
SNPdbe | rs751829413 |
MSV3d | rs751829413 |
GWAS Ctlg | rs751829413 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751829413(C;C) |
Alt | rs751829413(C;C) |
Reference | Rs751829413(A;A) |
Significance | Pathogenic |
Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Variation | info |
Gene | DLSTP1 ACADM |
CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.76211500A>C |
CLNSRC | |
CLNACC | RCV000211450.1, |