rs11568520
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs11568520(C;G) |
Make rs11568520(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132370023 |
Gene | LOC553103, SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs11568520 |
dbSNP (classic) | rs11568520 |
ClinGen | rs11568520 |
ebi | rs11568520 |
HLI | rs11568520 |
Exac | rs11568520 |
Gnomad | rs11568520 |
Varsome | rs11568520 |
LitVar | rs11568520 |
Map | rs11568520 |
PheGenI | rs11568520 |
Biobank | rs11568520 |
1000 genomes | rs11568520 |
hgdp | rs11568520 |
ensembl | rs11568520 |
geneview | rs11568520 |
scholar | rs11568520 |
rs11568520 | |
pharmgkb | rs11568520 |
gwascentral | rs11568520 |
openSNP | rs11568520 |
23andMe | rs11568520 |
SNPshot | rs11568520 |
SNPdbe | rs11568520 |
MSV3d | rs11568520 |
GWAS Ctlg | rs11568520 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs11568520(G;G) |
Alt | rs11568520(G;G) |
Reference | Rs11568520(C;C) |
Significance | Pathogenic |
Disease | Renal carnitine transport defect not provided |
Variation | info |
Gene | LOC553103 SLC22A5 |
CLNDBN | Renal carnitine transport defect not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.131705715C>G |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000022297.5, RCV000489029.1, |