rs68018207
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs68018207(C;C) |
Make rs68018207(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132389020 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs68018207 |
dbSNP (classic) | rs68018207 |
ClinGen | rs68018207 |
ebi | rs68018207 |
HLI | rs68018207 |
Exac | rs68018207 |
Gnomad | rs68018207 |
Varsome | rs68018207 |
LitVar | rs68018207 |
Map | rs68018207 |
PheGenI | rs68018207 |
Biobank | rs68018207 |
1000 genomes | rs68018207 |
hgdp | rs68018207 |
ensembl | rs68018207 |
geneview | rs68018207 |
scholar | rs68018207 |
rs68018207 | |
pharmgkb | rs68018207 |
gwascentral | rs68018207 |
openSNP | rs68018207 |
23andMe | rs68018207 |
SNPshot | rs68018207 |
SNPdbe | rs68018207 |
MSV3d | rs68018207 |
GWAS Ctlg | rs68018207 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs68018207(C;C) |
Alt | rs68018207(C;C) |
Reference | Rs68018207(T;T) |
Significance | Pathogenic |
Disease | Renal carnitine transport defect |
Variation | info |
Gene | SLC22A5 |
CLNDBN | Renal carnitine transport defect |
Reversed | 0 |
HGVS | NC_000005.9:g.131724712T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006792.5, |