rs8012
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | benign allele wrt glutaric acidemia |
| (A;G) | 0 | benign allele wrt glutaric acidemia |
| (G;G) | 0 | common/normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 12899706 |
| Gene | GCDH, SYCE2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8012 |
| dbSNP (classic) | rs8012 |
| ClinGen | rs8012 |
| ebi | rs8012 |
| HLI | rs8012 |
| Exac | rs8012 |
| Gnomad | rs8012 |
| Varsome | rs8012 |
| LitVar | rs8012 |
| Map | rs8012 |
| PheGenI | rs8012 |
| Biobank | rs8012 |
| 1000 genomes | rs8012 |
| hgdp | rs8012 |
| ensembl | rs8012 |
| geneview | rs8012 |
| scholar | rs8012 |
| rs8012 | |
| pharmgkb | rs8012 |
| gwascentral | rs8012 |
| openSNP | rs8012 |
| 23andMe | rs8012 |
| SNPshot | rs8012 |
| SNPdbe | rs8012 |
| MSV3d | rs8012 |
| GWAS Ctlg | rs8012 |
| Max Magnitude | 0 |
Although rs8012 is named as in ClinVar as c.*165A>G, in almost all populations the most common (reference) allele is actually rs8012(G).
In addition, although the first submission to ClinVar indicated that rs8012(G) was, when inherited in (recessive) homozygous form, associated with glutaric acidemia, the most current submission indicates this allele is actually benign, as would be expected for either the (A) or the (G) allele in this case, given their high allele frequencies.
Independently of the glutaric acidemia reports, there is a GWAS finding that reports a very minor effect on blood metabolites associated with the rs8012(A) allele.
| GWAS snp | |
|---|---|
| PMID | [PMID 24816252 ]
|
| Trait | Blood metabolite levels |
| Title | An atlas of genetic influences on human blood metabolites. |
| Risk Allele | A |
| P-val | 6E-45 |
| Odds Ratio | .04 [0.031-0.043] unit increase |
| ClinVar | |
|---|---|
| Risk | Rs8012(G;G) |
| Alt | Rs8012(G;G) |
| Reference | Rs8012(A;A) |
| Significance | Non-pathogenic |
| Disease | Glutaric aciduria Glutaric acidemia |
| Variation | info |
| Gene | SYCE2 GCDH |
| CLNDBN | Glutaric aciduria, type 1 Glutaric acidemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13010520A>G |
| CLNSRC | |
| CLNACC | RCV000190518.1, RCV000281284.1, |
