rs768836114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs768836114(G;G) |
Make rs768836114(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12893487 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs768836114 |
dbSNP (classic) | rs768836114 |
ClinGen | rs768836114 |
ebi | rs768836114 |
HLI | rs768836114 |
Exac | rs768836114 |
Gnomad | rs768836114 |
Varsome | rs768836114 |
LitVar | rs768836114 |
Map | rs768836114 |
PheGenI | rs768836114 |
Biobank | rs768836114 |
1000 genomes | rs768836114 |
hgdp | rs768836114 |
ensembl | rs768836114 |
geneview | rs768836114 |
scholar | rs768836114 |
rs768836114 | |
pharmgkb | rs768836114 |
gwascentral | rs768836114 |
openSNP | rs768836114 |
23andMe | rs768836114 |
SNPshot | rs768836114 |
SNPdbe | rs768836114 |
MSV3d | rs768836114 |
GWAS Ctlg | rs768836114 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768836114(A;A) rs768836114(G;G) |
Alt | rs768836114(A;A) rs768836114(G;G) |
Reference | Rs768836114(T;T) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13004301T>G |
CLNSRC | |
CLNACC | RCV000412155.1, |