rs587776759
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776759(-;G) |
Make rs587776759(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 48857719 |
Gene | SLC25A20 |
is a | snp |
is | mentioned by |
dbSNP | rs587776759 |
dbSNP (classic) | rs587776759 |
ClinGen | rs587776759 |
ebi | rs587776759 |
HLI | rs587776759 |
Exac | rs587776759 |
Gnomad | rs587776759 |
Varsome | rs587776759 |
LitVar | rs587776759 |
Map | rs587776759 |
PheGenI | rs587776759 |
Biobank | rs587776759 |
1000 genomes | rs587776759 |
hgdp | rs587776759 |
ensembl | rs587776759 |
geneview | rs587776759 |
scholar | rs587776759 |
rs587776759 | |
pharmgkb | rs587776759 |
gwascentral | rs587776759 |
openSNP | rs587776759 |
23andMe | rs587776759 |
SNPshot | rs587776759 |
SNPdbe | rs587776759 |
MSV3d | rs587776759 |
GWAS Ctlg | rs587776759 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776759(G;G) |
Alt | rs587776759(G;G) |
Reference | Rs587776759(-;-) |
Significance | Pathogenic |
Disease | Carnitine acylcarnitine translocase deficiency |
Variation | info |
Gene | SLC25A20 |
CLNDBN | Carnitine acylcarnitine translocase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.48895152dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012915.3, |