rs144547521
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144547521(C;T) |
Make rs144547521(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132390830 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs144547521 |
dbSNP (classic) | rs144547521 |
ClinGen | rs144547521 |
ebi | rs144547521 |
HLI | rs144547521 |
Exac | rs144547521 |
Gnomad | rs144547521 |
Varsome | rs144547521 |
LitVar | rs144547521 |
Map | rs144547521 |
PheGenI | rs144547521 |
Biobank | rs144547521 |
1000 genomes | rs144547521 |
hgdp | rs144547521 |
ensembl | rs144547521 |
geneview | rs144547521 |
scholar | rs144547521 |
rs144547521 | |
pharmgkb | rs144547521 |
gwascentral | rs144547521 |
openSNP | rs144547521 |
23andMe | rs144547521 |
SNPshot | rs144547521 |
SNPdbe | rs144547521 |
MSV3d | rs144547521 |
GWAS Ctlg | rs144547521 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144547521(T;T) |
Alt | rs144547521(T;T) |
Reference | Rs144547521(C;C) |
Significance | Other |
Disease | Renal carnitine transport defect not provided |
Variation | info |
Gene | SLC22A5 |
CLNDBN | Renal carnitine transport defect not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.131726522C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000022365.8, RCV000224074.1, |
[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.