Genetics Genetics Research
CHROMOSOME 11 DRD2 11q23.2 GENE VIEW DRD2 · 11q23.2 11q22 11q24 rs1799978 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs1799978 T / A · DRD2 · 11q23.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1799978

Gene: DRD2 — Dopamine Receptor D2 Chr 11:113475629 11q23.2 2KB upstream variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.932101C 0.067899TT 0.870053TC/CT 0.124096CC 0.005851pop=559,890 ↬
African T 0.84821C 0.15179TT 0.720028TC/CT 0.256364CC 0.023608pop=54,134
African American T 0.84865C 0.15135TT 0.720804TC/CT 0.255694CC 0.023502pop=52,250
African Others T 0.836C 0.164TT 0.698514TC/CT 0.274947CC 0.026539pop=1,884
Asian T 0.8433C 0.1567TT 0.711976TC/CT 0.262643CC 0.025381pop=10,638
East Asian T 0.8374C 0.1626TT 0.700626TC/CT 0.273603CC 0.025771pop=8,304
European T 0.945632C 0.054368TT 0.894345TC/CT 0.102574CC 0.003081pop=446,584
Latin American 1 T 0.9224C 0.0776TT 0.853413TC/CT 0.138027CC 0.00856pop=9,346
Latin American 2 T 0.91887C 0.08113TT 0.844313TC/CT 0.149121CC 0.006566pop=18,884
Other T 0.92199C 0.07801TT 0.851301TC/CT 0.141384CC 0.007315pop=16,678
Other Asian T 0.8642C 0.1358TT 0.752356TC/CT 0.22365CC 0.023993pop=2,334
South Asian T 0.9189C 0.0811TT 0.845008TC/CT 0.147821CC 0.00717pop=3,626

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