rs386134203
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386134203(C;T) |
Make rs386134203(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 132385444 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs386134203 |
dbSNP (classic) | rs386134203 |
ClinGen | rs386134203 |
ebi | rs386134203 |
HLI | rs386134203 |
Exac | rs386134203 |
Gnomad | rs386134203 |
Varsome | rs386134203 |
LitVar | rs386134203 |
Map | rs386134203 |
PheGenI | rs386134203 |
Biobank | rs386134203 |
1000 genomes | rs386134203 |
hgdp | rs386134203 |
ensembl | rs386134203 |
geneview | rs386134203 |
scholar | rs386134203 |
rs386134203 | |
pharmgkb | rs386134203 |
gwascentral | rs386134203 |
openSNP | rs386134203 |
23andMe | rs386134203 |
SNPshot | rs386134203 |
SNPdbe | rs386134203 |
MSV3d | rs386134203 |
GWAS Ctlg | rs386134203 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134203(G;G) rs386134203(T;T) |
Alt | rs386134203(G;G) rs386134203(T;T) |
Reference | Rs386134203(C;C) |
Significance | Untested |
Disease | Renal carnitine transport defect |
Variation | info |
Gene | SLC22A5 |
CLNDBN | Renal carnitine transport defect |
Reversed | 0 |
HGVS | NC_000005.9:g.131721136C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000022344.2, |