rs879234543
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879234543(A;T) |
Make rs879234543(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 75762690 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs879234543 |
dbSNP (classic) | rs879234543 |
ClinGen | rs879234543 |
ebi | rs879234543 |
HLI | rs879234543 |
Exac | rs879234543 |
Gnomad | rs879234543 |
Varsome | rs879234543 |
LitVar | rs879234543 |
Map | rs879234543 |
PheGenI | rs879234543 |
Biobank | rs879234543 |
1000 genomes | rs879234543 |
hgdp | rs879234543 |
ensembl | rs879234543 |
geneview | rs879234543 |
scholar | rs879234543 |
rs879234543 | |
pharmgkb | rs879234543 |
gwascentral | rs879234543 |
openSNP | rs879234543 |
23andMe | rs879234543 |
SNPshot | rs879234543 |
SNPdbe | rs879234543 |
MSV3d | rs879234543 |
GWAS Ctlg | rs879234543 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879234543(C;C) rs879234543(T;T) |
Alt | rs879234543(C;C) rs879234543(T;T) |
Reference | Rs879234543(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.76228375A>T |
CLNSRC | |
CLNACC | RCV000411995.1, |