rs386134215
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCT;GCT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGC;TGC) | 0 | common in clinvar |
Make rs386134215(-;-) |
Make rs386134215(-;TGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132390818 |
Gene | SLC22A5 |
is a | snp |
is | mentioned by |
dbSNP | rs386134215 |
dbSNP (classic) | rs386134215 |
ClinGen | rs386134215 |
ebi | rs386134215 |
HLI | rs386134215 |
Exac | rs386134215 |
Gnomad | rs386134215 |
Varsome | rs386134215 |
LitVar | rs386134215 |
Map | rs386134215 |
PheGenI | rs386134215 |
Biobank | rs386134215 |
1000 genomes | rs386134215 |
hgdp | rs386134215 |
ensembl | rs386134215 |
geneview | rs386134215 |
scholar | rs386134215 |
rs386134215 | |
pharmgkb | rs386134215 |
gwascentral | rs386134215 |
openSNP | rs386134215 |
23andMe | rs386134215 |
SNPshot | rs386134215 |
SNPdbe | rs386134215 |
MSV3d | rs386134215 |
GWAS Ctlg | rs386134215 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134215(-;-) Rs386134215(GCT;GCT) |
Alt | rs386134215(-;-) Rs386134215(GCT;GCT) |
Reference | Rs386134215(TGC;TGC) |
Significance | Probable-Pathogenic |
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.131726510_131726512delTGC |
CLNSRC | ClinVar |
CLNACC | RCV000022364.2, RCV000186156.1, |