rs11568513
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs11568513(A;A) |
Make rs11568513(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132392606 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs11568513 |
dbSNP (classic) | rs11568513 |
ClinGen | rs11568513 |
ebi | rs11568513 |
HLI | rs11568513 |
Exac | rs11568513 |
Gnomad | rs11568513 |
Varsome | rs11568513 |
LitVar | rs11568513 |
Map | rs11568513 |
PheGenI | rs11568513 |
Biobank | rs11568513 |
1000 genomes | rs11568513 |
hgdp | rs11568513 |
ensembl | rs11568513 |
geneview | rs11568513 |
scholar | rs11568513 |
rs11568513 | |
pharmgkb | rs11568513 |
gwascentral | rs11568513 |
openSNP | rs11568513 |
23andMe | rs11568513 |
SNPshot | rs11568513 |
SNPdbe | rs11568513 |
MSV3d | rs11568513 |
GWAS Ctlg | rs11568513 |
GMAF | 0.001837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs11568513(A;A) rs11568513(T;T) |
Alt | rs11568513(A;A) rs11568513(T;T) |
Reference | Rs11568513(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Renal carnitine transport defect |
Variation | info |
Gene | SLC22A5 |
CLNDBN | not specified Renal carnitine transport defect |
Reversed | 0 |
HGVS | NC_000005.9:g.131728298G>A; NC_000005.9:g.131728298G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000419453.1, RCV000022384.2, |
[PMID 16931768] Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).