rs148260275
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs148260275(C;C) |
Make rs148260275(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 75740112 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs148260275 |
dbSNP (classic) | rs148260275 |
ClinGen | rs148260275 |
ebi | rs148260275 |
HLI | rs148260275 |
Exac | rs148260275 |
Gnomad | rs148260275 |
Varsome | rs148260275 |
LitVar | rs148260275 |
Map | rs148260275 |
PheGenI | rs148260275 |
Biobank | rs148260275 |
1000 genomes | rs148260275 |
hgdp | rs148260275 |
ensembl | rs148260275 |
geneview | rs148260275 |
scholar | rs148260275 |
rs148260275 | |
pharmgkb | rs148260275 |
gwascentral | rs148260275 |
openSNP | rs148260275 |
23andMe | rs148260275 |
SNPshot | rs148260275 |
SNPdbe | rs148260275 |
MSV3d | rs148260275 |
GWAS Ctlg | rs148260275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148260275(C;C) |
Alt | rs148260275(C;C) |
Reference | Rs148260275(T;T) |
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.76205797T>C |
CLNSRC | |
CLNACC | RCV000411016.1, |