rs121434283
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434283(C;T) |
Make rs121434283(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 75733603 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs121434283 |
dbSNP (classic) | rs121434283 |
ClinGen | rs121434283 |
ebi | rs121434283 |
HLI | rs121434283 |
Exac | rs121434283 |
Gnomad | rs121434283 |
Varsome | rs121434283 |
LitVar | rs121434283 |
Map | rs121434283 |
PheGenI | rs121434283 |
Biobank | rs121434283 |
1000 genomes | rs121434283 |
hgdp | rs121434283 |
ensembl | rs121434283 |
geneview | rs121434283 |
scholar | rs121434283 |
rs121434283 | |
pharmgkb | rs121434283 |
gwascentral | rs121434283 |
openSNP | rs121434283 |
23andMe | rs121434283 |
SNPshot | rs121434283 |
SNPdbe | rs121434283 |
MSV3d | rs121434283 |
GWAS Ctlg | rs121434283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434283(T;T) |
Alt | rs121434283(T;T) |
Reference | Rs121434283(C;C) |
Significance | Pathogenic |
Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Variation | info |
Gene | ACADM |
CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.76199288C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003782.2, RCV000185674.2, |