rs786205862
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a Glutaric aciduria type I mutation |
(G;G) | 0 | common in clinvar |
Make rs786205862(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 12896244 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs786205862 |
dbSNP (classic) | rs786205862 |
ClinGen | rs786205862 |
ebi | rs786205862 |
HLI | rs786205862 |
Exac | rs786205862 |
Gnomad | rs786205862 |
Varsome | rs786205862 |
LitVar | rs786205862 |
Map | rs786205862 |
PheGenI | rs786205862 |
Biobank | rs786205862 |
1000 genomes | rs786205862 |
hgdp | rs786205862 |
ensembl | rs786205862 |
geneview | rs786205862 |
scholar | rs786205862 |
rs786205862 | |
pharmgkb | rs786205862 |
gwascentral | rs786205862 |
openSNP | rs786205862 |
23andMe | rs786205862 |
SNPshot | rs786205862 |
SNPdbe | rs786205862 |
MSV3d | rs786205862 |
GWAS Ctlg | rs786205862 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs786205862(A;A) |
Alt | rs786205862(A;A) |
Reference | Rs786205862(G;G) |
Significance | Other |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13007058G>A |
CLNSRC | |
CLNACC | RCV000171558.2, |