rs368647424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs368647424(C;T) |
Make rs368647424(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 19177779 |
Gene | SLC25A1 |
is a | snp |
is | mentioned by |
dbSNP | rs368647424 |
dbSNP (classic) | rs368647424 |
ClinGen | rs368647424 |
ebi | rs368647424 |
HLI | rs368647424 |
Exac | rs368647424 |
Gnomad | rs368647424 |
Varsome | rs368647424 |
LitVar | rs368647424 |
Map | rs368647424 |
PheGenI | rs368647424 |
Biobank | rs368647424 |
1000 genomes | rs368647424 |
hgdp | rs368647424 |
ensembl | rs368647424 |
geneview | rs368647424 |
scholar | rs368647424 |
rs368647424 | |
pharmgkb | rs368647424 |
gwascentral | rs368647424 |
openSNP | rs368647424 |
23andMe | rs368647424 |
SNPshot | rs368647424 |
SNPdbe | rs368647424 |
MSV3d | rs368647424 |
GWAS Ctlg | rs368647424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368647424(T;T) |
Alt | rs368647424(T;T) |
Reference | Rs368647424(C;C) |
Significance | Pathogenic |
Disease | Combined d-2- and l-2-hydroxyglutaric aciduria |
Variation | info |
Gene | SLC25A1 |
CLNDBN | Combined d-2- and l-2-hydroxyglutaric aciduria |
Reversed | 0 |
HGVS | NC_000022.10:g.19165292C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000035020.24, |