rs139203363
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139203363(A;A) |
Make rs139203363(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 132370006 |
Gene | LOC553103, SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs139203363 |
dbSNP (classic) | rs139203363 |
ClinGen | rs139203363 |
ebi | rs139203363 |
HLI | rs139203363 |
Exac | rs139203363 |
Gnomad | rs139203363 |
Varsome | rs139203363 |
LitVar | rs139203363 |
Map | rs139203363 |
PheGenI | rs139203363 |
Biobank | rs139203363 |
1000 genomes | rs139203363 |
hgdp | rs139203363 |
ensembl | rs139203363 |
geneview | rs139203363 |
scholar | rs139203363 |
rs139203363 | |
pharmgkb | rs139203363 |
gwascentral | rs139203363 |
openSNP | rs139203363 |
23andMe | rs139203363 |
SNPshot | rs139203363 |
SNPdbe | rs139203363 |
MSV3d | rs139203363 |
GWAS Ctlg | rs139203363 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139203363(A;A) |
Alt | rs139203363(A;A) |
Reference | Rs139203363(G;G) |
Significance | Untested |
Disease | Renal carnitine transport defect |
Variation | info |
Gene | LOC553103 SLC22A5 |
CLNDBN | Renal carnitine transport defect |
Reversed | 0 |
HGVS | NC_000005.9:g.131705698G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000022295.3, |