rs267607052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607052(G;T) |
Make rs267607052(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132370015 |
Gene | LOC553103, SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs267607052 |
dbSNP (classic) | rs267607052 |
ClinGen | rs267607052 |
ebi | rs267607052 |
HLI | rs267607052 |
Exac | rs267607052 |
Gnomad | rs267607052 |
Varsome | rs267607052 |
LitVar | rs267607052 |
Map | rs267607052 |
PheGenI | rs267607052 |
Biobank | rs267607052 |
1000 genomes | rs267607052 |
hgdp | rs267607052 |
ensembl | rs267607052 |
geneview | rs267607052 |
scholar | rs267607052 |
rs267607052 | |
pharmgkb | rs267607052 |
gwascentral | rs267607052 |
openSNP | rs267607052 |
23andMe | rs267607052 |
SNPshot | rs267607052 |
SNPdbe | rs267607052 |
MSV3d | rs267607052 |
GWAS Ctlg | rs267607052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607052(T;T) |
Alt | rs267607052(T;T) |
Reference | Rs267607052(G;G) |
Significance | Other |
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.131705707G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006798.6, RCV000186150.2, |