rs766518430
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs766518430(C;T) |
Make rs766518430(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 12896338 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs766518430 |
dbSNP (classic) | rs766518430 |
ClinGen | rs766518430 |
ebi | rs766518430 |
HLI | rs766518430 |
Exac | rs766518430 |
Gnomad | rs766518430 |
Varsome | rs766518430 |
LitVar | rs766518430 |
Map | rs766518430 |
PheGenI | rs766518430 |
Biobank | rs766518430 |
1000 genomes | rs766518430 |
hgdp | rs766518430 |
ensembl | rs766518430 |
geneview | rs766518430 |
scholar | rs766518430 |
rs766518430 | |
pharmgkb | rs766518430 |
gwascentral | rs766518430 |
openSNP | rs766518430 |
23andMe | rs766518430 |
SNPshot | rs766518430 |
SNPdbe | rs766518430 |
MSV3d | rs766518430 |
GWAS Ctlg | rs766518430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766518430(T;T) |
Alt | rs766518430(T;T) |
Reference | Rs766518430(C;C) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria not provided |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.13007152C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169226.1, RCV000480428.1, |