rs144020613
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs144020613(A;A) |
Make rs144020613(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132370031 |
Gene | LOC553103, SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs144020613 |
dbSNP (classic) | rs144020613 |
ClinGen | rs144020613 |
ebi | rs144020613 |
HLI | rs144020613 |
Exac | rs144020613 |
Gnomad | rs144020613 |
Varsome | rs144020613 |
LitVar | rs144020613 |
Map | rs144020613 |
PheGenI | rs144020613 |
Biobank | rs144020613 |
1000 genomes | rs144020613 |
hgdp | rs144020613 |
ensembl | rs144020613 |
geneview | rs144020613 |
scholar | rs144020613 |
rs144020613 | |
pharmgkb | rs144020613 |
gwascentral | rs144020613 |
openSNP | rs144020613 |
23andMe | rs144020613 |
SNPshot | rs144020613 |
SNPdbe | rs144020613 |
MSV3d | rs144020613 |
GWAS Ctlg | rs144020613 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144020613(A;A) |
Alt | rs144020613(A;A) |
Reference | Rs144020613(T;T) |
Significance | Untested |
Disease | Renal carnitine transport defect |
Variation | info |
Gene | LOC553103 SLC22A5 |
CLNDBN | Renal carnitine transport defect |
Reversed | 0 |
HGVS | NC_000005.9:g.131705723T>A |
CLNSRC | ARUP SLC22A5 |
CLNACC | RCV000022299.2, |