rs121908890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908890(C;T) |
Make rs121908890(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132384154 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs121908890 |
dbSNP (classic) | rs121908890 |
ClinGen | rs121908890 |
ebi | rs121908890 |
HLI | rs121908890 |
Exac | rs121908890 |
Gnomad | rs121908890 |
Varsome | rs121908890 |
LitVar | rs121908890 |
Map | rs121908890 |
PheGenI | rs121908890 |
Biobank | rs121908890 |
1000 genomes | rs121908890 |
hgdp | rs121908890 |
ensembl | rs121908890 |
geneview | rs121908890 |
scholar | rs121908890 |
rs121908890 | |
pharmgkb | rs121908890 |
gwascentral | rs121908890 |
openSNP | rs121908890 |
23andMe | rs121908890 |
SNPshot | rs121908890 |
SNPdbe | rs121908890 |
MSV3d | rs121908890 |
GWAS Ctlg | rs121908890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908890(T;T) |
Alt | rs121908890(T;T) |
Reference | Rs121908890(C;C) |
Significance | Other |
Disease | Renal carnitine transport defect |
Variation | info |
Gene | SLC22A5 |
CLNDBN | Renal carnitine transport defect |
Reversed | 0 |
HGVS | NC_000005.9:g.131719846C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006791.7, |