rs786204626
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204626(A;A) |
Make rs786204626(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 12897825 |
Gene | GCDH, SYCE2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204626 |
dbSNP (classic) | rs786204626 |
ClinGen | rs786204626 |
ebi | rs786204626 |
HLI | rs786204626 |
Exac | rs786204626 |
Gnomad | rs786204626 |
Varsome | rs786204626 |
LitVar | rs786204626 |
Map | rs786204626 |
PheGenI | rs786204626 |
Biobank | rs786204626 |
1000 genomes | rs786204626 |
hgdp | rs786204626 |
ensembl | rs786204626 |
geneview | rs786204626 |
scholar | rs786204626 |
rs786204626 | |
pharmgkb | rs786204626 |
gwascentral | rs786204626 |
openSNP | rs786204626 |
23andMe | rs786204626 |
SNPshot | rs786204626 |
SNPdbe | rs786204626 |
MSV3d | rs786204626 |
GWAS Ctlg | rs786204626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204626(A;A) |
Alt | rs786204626(A;A) |
Reference | Rs786204626(G;G) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13008639G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169398.1, |