rs377724489
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs377724489(A;C) |
Make rs377724489(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 132378376 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs377724489 |
dbSNP (classic) | rs377724489 |
ClinGen | rs377724489 |
ebi | rs377724489 |
HLI | rs377724489 |
Exac | rs377724489 |
Gnomad | rs377724489 |
Varsome | rs377724489 |
LitVar | rs377724489 |
Map | rs377724489 |
PheGenI | rs377724489 |
Biobank | rs377724489 |
1000 genomes | rs377724489 |
hgdp | rs377724489 |
ensembl | rs377724489 |
geneview | rs377724489 |
scholar | rs377724489 |
rs377724489 | |
pharmgkb | rs377724489 |
gwascentral | rs377724489 |
openSNP | rs377724489 |
23andMe | rs377724489 |
SNPshot | rs377724489 |
SNPdbe | rs377724489 |
MSV3d | rs377724489 |
GWAS Ctlg | rs377724489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377724489(C;C) rs377724489(T;T) |
Alt | rs377724489(C;C) rs377724489(T;T) |
Reference | Rs377724489(A;A) |
Significance | Pathogenic |
Disease | Renal carnitine transport defect |
Variation | info |
Gene | SLC22A5 |
CLNDBN | Renal carnitine transport defect |
Reversed | 0 |
HGVS | NC_000005.9:g.131714068A>C |
CLNSRC | |
CLNACC | RCV000153961.3, |