Genetics Genetics Research
CHROMOSOME 5 DRD1 5q35.2 GENE VIEW DRD1 · 5q35.2 5q34 5q36 rs686 — ~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 rs686 G / A · DRD1 · 5q35.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs686

Gene: DRD1 — Dopamine Receptor D1 Chr 5:175441697 5q35.2 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.387839A 0.612161GG 0.155998GA/AG 0.463681AA 0.380321pop=563,072 ↬
African G 0.56071A 0.43929GG 0.316496GA/AG 0.488433AA 0.195071pop=55,590
African American G 0.55955A 0.44045GG 0.315057GA/AG 0.488978AA 0.195964pop=53,622
African Others G 0.5925A 0.4075GG 0.355691GA/AG 0.473577AA 0.170732pop=1,968
Asian G 0.13295A 0.86705GG 0.014709GA/AG 0.236485AA 0.748806pop=10,470
East Asian G 0.126A 0.874GG 0.013747GA/AG 0.224461AA 0.761792pop=8,438
European G 0.376542A 0.623458GG 0.142315GA/AG 0.468454AA 0.389231pop=451,562
Latin American 1 G 0.4053A 0.5947GG 0.166438GA/AG 0.477824AA 0.355738pop=8,748
Latin American 2 G 0.28209A 0.71791GG 0.079696GA/AG 0.404798AA 0.515506pop=17,090
Other G 0.36405A 0.63595GG 0.142347GA/AG 0.443403AA 0.41425pop=13,446
Other Asian G 0.1619A 0.8381GG 0.018701GA/AG 0.286417AA 0.694882pop=2,032
South Asian G 0.4095A 0.5905GG 0.177425GA/AG 0.464158AA 0.358417pop=6,166

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