Genetics Genetics Research
CHROMOSOME 3 DRD3 3q13.31 GENE VIEW DRD3 · 3q13.31 3q12 3q14 rs6280 — ~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 rs6280 Glycine 9 → Serine C / T · DRD3 · 3q13.31 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs6280

Glycine 9 → Serine Gene: DRD3 — Dopamine Receptor D3 Chr 3:114171968 3q13.31 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.367173T 0.632827CC 0.149558CT/TC 0.43523TT 0.415212pop=772,782 ↬
African C 0.72691T 0.27309CC 0.530769CT/TC 0.392288TT 0.076943pop=68,934
African American C 0.72382T 0.27618CC 0.525914CT/TC 0.395818TT 0.078268pop=66,566
African Others C 0.8138T 0.1862CC 0.66723CT/TC 0.293074TT 0.039696pop=2,368
Asian C 0.3031T 0.6969CC 0.09346CT/TC 0.419279TT 0.487261pop=17,034
East Asian C 0.29944T 0.70056CC 0.08974CT/TC 0.419405TT 0.490856pop=12,904
European C 0.323984T 0.676016CC 0.105824CT/TC 0.43632TT 0.457856pop=615,722
Latin American 1 C 0.44037T 0.55963CC 0.190512CT/TC 0.499719TT 0.309769pop=10,666
Latin American 2 C 0.45211T 0.54789CC 0.203289CT/TC 0.497644TT 0.299067pop=20,798
Other C 0.36559T 0.63441CC 0.144545CT/TC 0.442092TT 0.413363pop=30,980
Other Asian C 0.3145T 0.6855CC 0.105085CT/TC 0.418886TT 0.476029pop=4,130
South Asian C 0.412T 0.588CC 0.173451CT/TC 0.477105TT 0.349445pop=8,648

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