rs118204020
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118204020(C;T) |
Make rs118204020(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 50269164 |
Gene | L2HGDH |
is a | snp |
is | mentioned by |
dbSNP | rs118204020 |
dbSNP (classic) | rs118204020 |
ClinGen | rs118204020 |
ebi | rs118204020 |
HLI | rs118204020 |
Exac | rs118204020 |
Gnomad | rs118204020 |
Varsome | rs118204020 |
LitVar | rs118204020 |
Map | rs118204020 |
PheGenI | rs118204020 |
Biobank | rs118204020 |
1000 genomes | rs118204020 |
hgdp | rs118204020 |
ensembl | rs118204020 |
geneview | rs118204020 |
scholar | rs118204020 |
rs118204020 | |
pharmgkb | rs118204020 |
gwascentral | rs118204020 |
openSNP | rs118204020 |
23andMe | rs118204020 |
SNPshot | rs118204020 |
SNPdbe | rs118204020 |
MSV3d | rs118204020 |
GWAS Ctlg | rs118204020 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118204020(T;T) |
Alt | rs118204020(T;T) |
Reference | Rs118204020(C;C) |
Significance | Pathogenic |
Disease | L-2-hydroxyglutaric aciduria |
Variation | info |
Gene | L2HGDH |
CLNDBN | L-2-hydroxyglutaric aciduria |
Reversed | 1 |
HGVS | NC_000014.8:g.50735882G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001674.3, |