rs12021720
From SNPedia
| a harmless snp |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (C;T) | 0.05 | |
| (T;T) | 0.1 | rare genotype but harmless |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 100206504 |
| Gene | DBT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12021720 |
| dbSNP (classic) | rs12021720 |
| ClinGen | rs12021720 |
| ebi | rs12021720 |
| HLI | rs12021720 |
| Exac | rs12021720 |
| Gnomad | rs12021720 |
| Varsome | rs12021720 |
| LitVar | rs12021720 |
| Map | rs12021720 |
| PheGenI | rs12021720 |
| Biobank | rs12021720 |
| 1000 genomes | rs12021720 |
| hgdp | rs12021720 |
| ensembl | rs12021720 |
| geneview | rs12021720 |
| scholar | rs12021720 |
| rs12021720 | |
| pharmgkb | rs12021720 |
| gwascentral | rs12021720 |
| openSNP | rs12021720 |
| 23andMe | rs12021720 |
| SNPshot | rs12021720 |
| SNPdbe | rs12021720 |
| MSV3d | rs12021720 |
| GWAS Ctlg | rs12021720 |
| Merged from | Rs17856511 |
| GMAF | 0.1015 |
| Max Magnitude | 0.1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Two SNPedia users have self reported the (T;T) genotype with no apparent consequences. It was first noted in a patient with documented in omim. A Japanese patient with the intermediate form of maple syrup urine disease 2 [PMID 9621512] showed a compound heterozygote for both
- the apparently causative C->G transversion at nucleotide 309 DBT gene (I37M)
- this G->A transition in exon 9 (G323S) which with no obvious consequences
| ClinVar | |
|---|---|
| Risk | Rs12021720(C;C) |
| Alt | Rs12021720(C;C) |
| Reference | Rs12021720(T;T) |
| Significance | Other |
| Disease | Intermediate maple syrup urine disease type 2 not specified |
| Variation | info |
| Gene | DBT |
| CLNDBN | Intermediate maple syrup urine disease type 2 not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.100672060T\x3d; NC_000001.10:g.100672060T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012727.23, RCV000116865.5, |
