{{Rsnum
|rsid=12021720
|Gene=DBT
|Chromosome=1
|position=100206504
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1015
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=a harmless snp
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=DBT
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 81.4 | 17.7 | 0.9
| HCB | 92.7 | 7.3 | 0.0
| JPT | 98.2 | 1.8 | 0.0
| YRI | 51.7 | 38.8 | 9.5
| ASW | 71.9 | 26.3 | 1.8
| CHB | 92.7 | 7.3 | 0.0
| CHD | 94.5 | 5.5 | 0.0
| GIH | 91.1 | 8.9 | 0.0
| LWK | 64.5 | 28.2 | 7.3
| MEX | 93.0 | 7.0 | 0.0
| MKK | 59.6 | 37.8 | 2.6
| TSI | 82.2 | 15.8 | 2.0
| HapMapRevision=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 [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610 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

{{Venter SNP
|rsid=12021720
|allele=C
|frequency=0.924
|uid=1103675174830
|type=homozygous_SNP
|hugo=DBT
|ensembl gene=ENSG00000137992
|ensembl transcript=ENST00000370132
|sift=TOLERATED
|disease=Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2) (MIM:248600). MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine.
}}

{{omim
|id=248610
|rsnum=12021720
|variant=0008
}}

{{ClinVar
|rsid=12021720
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=100206504
|CHROM=1
|GMAF=0.1012
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050160000a0515051f110100
|GENEINFO=DBT:1629
|GENE_NAME=DBT
|GENE_ID=1629
|WGT=1
|VC=SNV
|CLNALLE=0; 1
|CLNHGVS=NC_000001.11:g.100206504T\x3d; NC_000001.11:g.100206504T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.1015; 0.8985
|CLNACC=RCV000012727.21; RCV000116865.1
|CLNDBN=Intermediate maple syrup urine disease type 2; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN069615; CN169374
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001918.3:c.1150G>A; 248610.0008; NM_001918.3:c.1150G\x3d
|COMMON=1
|Disease=Intermediate maple syrup urine disease type 2; AllHighlyPenetrant
}}

{{GET Evidence
|gene=DBT
|aa_change=Ser384Gly
|aa_change_short=S384G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12021720
|overall_frequency_n=9235
|overall_frequency_d=10758
|overall_frequency=0.858431
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=93
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=4
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}