rs151340616
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151340616(C;T) |
Make rs151340616(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 48862581 |
Gene | SLC25A20 |
is a | snp |
is | mentioned by |
dbSNP | rs151340616 |
dbSNP (classic) | rs151340616 |
ClinGen | rs151340616 |
ebi | rs151340616 |
HLI | rs151340616 |
Exac | rs151340616 |
Gnomad | rs151340616 |
Varsome | rs151340616 |
LitVar | rs151340616 |
Map | rs151340616 |
PheGenI | rs151340616 |
Biobank | rs151340616 |
1000 genomes | rs151340616 |
hgdp | rs151340616 |
ensembl | rs151340616 |
geneview | rs151340616 |
scholar | rs151340616 |
rs151340616 | |
pharmgkb | rs151340616 |
gwascentral | rs151340616 |
openSNP | rs151340616 |
23andMe | rs151340616 |
SNPshot | rs151340616 |
SNPdbe | rs151340616 |
MSV3d | rs151340616 |
GWAS Ctlg | rs151340616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151340616(T;T) |
Alt | rs151340616(T;T) |
Reference | Rs151340616(C;C) |
Significance | Pathogenic |
Disease | Carnitine acylcarnitine translocase deficiency |
Variation | info |
Gene | SLC25A20 |
CLNDBN | Carnitine acylcarnitine translocase deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.48900014G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012918.3, |