rs202088921
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202088921(C;T) |
Make rs202088921(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132370108 |
Gene | LOC553103, SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs202088921 |
dbSNP (classic) | rs202088921 |
ClinGen | rs202088921 |
ebi | rs202088921 |
HLI | rs202088921 |
Exac | rs202088921 |
Gnomad | rs202088921 |
Varsome | rs202088921 |
LitVar | rs202088921 |
Map | rs202088921 |
PheGenI | rs202088921 |
Biobank | rs202088921 |
1000 genomes | rs202088921 |
hgdp | rs202088921 |
ensembl | rs202088921 |
geneview | rs202088921 |
scholar | rs202088921 |
rs202088921 | |
pharmgkb | rs202088921 |
gwascentral | rs202088921 |
openSNP | rs202088921 |
23andMe | rs202088921 |
SNPshot | rs202088921 |
SNPdbe | rs202088921 |
MSV3d | rs202088921 |
GWAS Ctlg | rs202088921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202088921(G;G) rs202088921(T;T) |
Alt | rs202088921(G;G) rs202088921(T;T) |
Reference | Rs202088921(C;C) |
Significance | Pathogenic |
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.131705800C>G; NC_000005.9:g.131705800C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000022303.2, RCV000173299.1, RCV000186152.2, |
[PMID 17126586] Expanded newborn screening identifies maternal primary carnitine deficiency.