rs148207467
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148207467(C;T) |
Make rs148207467(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 75761221 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs148207467 |
dbSNP (classic) | rs148207467 |
ClinGen | rs148207467 |
ebi | rs148207467 |
HLI | rs148207467 |
Exac | rs148207467 |
Gnomad | rs148207467 |
Varsome | rs148207467 |
LitVar | rs148207467 |
Map | rs148207467 |
PheGenI | rs148207467 |
Biobank | rs148207467 |
1000 genomes | rs148207467 |
hgdp | rs148207467 |
ensembl | rs148207467 |
geneview | rs148207467 |
scholar | rs148207467 |
rs148207467 | |
pharmgkb | rs148207467 |
gwascentral | rs148207467 |
openSNP | rs148207467 |
23andMe | rs148207467 |
SNPshot | rs148207467 |
SNPdbe | rs148207467 |
MSV3d | rs148207467 |
GWAS Ctlg | rs148207467 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148207467(T;T) |
Alt | rs148207467(T;T) |
Reference | Rs148207467(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.76226906C>T |
CLNSRC | Counsyl |
CLNACC | RCV000169403.1, RCV000441828.1, |