rs267607054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607054(C;T) |
Make rs267607054(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132390832 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs267607054 |
dbSNP (classic) | rs267607054 |
ClinGen | rs267607054 |
ebi | rs267607054 |
HLI | rs267607054 |
Exac | rs267607054 |
Gnomad | rs267607054 |
Varsome | rs267607054 |
LitVar | rs267607054 |
Map | rs267607054 |
PheGenI | rs267607054 |
Biobank | rs267607054 |
1000 genomes | rs267607054 |
hgdp | rs267607054 |
ensembl | rs267607054 |
geneview | rs267607054 |
scholar | rs267607054 |
rs267607054 | |
pharmgkb | rs267607054 |
gwascentral | rs267607054 |
openSNP | rs267607054 |
23andMe | rs267607054 |
SNPshot | rs267607054 |
SNPdbe | rs267607054 |
MSV3d | rs267607054 |
GWAS Ctlg | rs267607054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607054(T;T) |
Alt | rs267607054(T;T) |
Reference | Rs267607054(C;C) |
Significance | Other |
Disease | Renal carnitine transport defect not provided |
Variation | info |
Gene | SLC22A5 |
CLNDBN | Renal carnitine transport defect not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.131726524C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006796.4, RCV000186144.3, |