rs587776760
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587776760(-;-) |
Make rs587776760(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 48898711 |
Gene | SLC25A20 |
is a | snp |
is | mentioned by |
dbSNP | rs587776760 |
dbSNP (classic) | rs587776760 |
ClinGen | rs587776760 |
ebi | rs587776760 |
HLI | rs587776760 |
Exac | rs587776760 |
Gnomad | rs587776760 |
Varsome | rs587776760 |
LitVar | rs587776760 |
Map | rs587776760 |
PheGenI | rs587776760 |
Biobank | rs587776760 |
1000 genomes | rs587776760 |
hgdp | rs587776760 |
ensembl | rs587776760 |
geneview | rs587776760 |
scholar | rs587776760 |
rs587776760 | |
pharmgkb | rs587776760 |
gwascentral | rs587776760 |
openSNP | rs587776760 |
23andMe | rs587776760 |
SNPshot | rs587776760 |
SNPdbe | rs587776760 |
MSV3d | rs587776760 |
GWAS Ctlg | rs587776760 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776760(-;-) |
Alt | rs587776760(-;-) |
Reference | Rs587776760(A;A) |
Significance | Pathogenic |
Disease | Carnitine acylcarnitine translocase deficiency not provided |
Variation | info |
Gene | SLC25A20 |
CLNDBN | Carnitine acylcarnitine translocase deficiency not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.48936144delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012919.3, RCV000186166.1, |