rs768925619
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs768925619(A;A) |
Make rs768925619(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 12897406 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs768925619 |
dbSNP (classic) | rs768925619 |
ClinGen | rs768925619 |
ebi | rs768925619 |
HLI | rs768925619 |
Exac | rs768925619 |
Gnomad | rs768925619 |
Varsome | rs768925619 |
LitVar | rs768925619 |
Map | rs768925619 |
PheGenI | rs768925619 |
Biobank | rs768925619 |
1000 genomes | rs768925619 |
hgdp | rs768925619 |
ensembl | rs768925619 |
geneview | rs768925619 |
scholar | rs768925619 |
rs768925619 | |
pharmgkb | rs768925619 |
gwascentral | rs768925619 |
openSNP | rs768925619 |
23andMe | rs768925619 |
SNPshot | rs768925619 |
SNPdbe | rs768925619 |
MSV3d | rs768925619 |
GWAS Ctlg | rs768925619 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768925619(A;A) |
Alt | rs768925619(A;A) |
Reference | Rs768925619(G;G) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13008220G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169320.1, |