Genetics Genetics Research
CHROMOSOME 9 DBH 9q34.2 GENE VIEW DBH · 9q34.2 9q33 9q35 rs1611115 — ~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 rs1611115 T / A · DBH · 9q34.2 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

rs1611115

Gene: DBH — Dopamine Beta-Hydroxylase Chr 9:133635393 9q34.2 2KB upstream variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.217823C 0.782177TT 0.049902TC/CT 0.335842CC 0.614256pop=353,374 ↬
African T 0.17901C 0.82099TT 0.036349TC/CT 0.285313CC 0.678338pop=29,932
African American T 0.17959C 0.82041TT 0.036785TC/CT 0.285616CC 0.677599pop=29,088
African Others T 0.159C 0.841TT 0.021327TC/CT 0.274882CC 0.703791pop=844
Asian T 0.1782C 0.8218TT 0.035648TC/CT 0.285183CC 0.679169pop=6,452
East Asian T 0.177C 0.823TT 0.035809TC/CT 0.282322CC 0.68187pop=5,306
European T 0.216518C 0.783482TT 0.048389TC/CT 0.336256CC 0.615354pop=288,286
Latin American 1 T 0.2375C 0.7625TT 0.055657TC/CT 0.363769CC 0.580575pop=5,498
Latin American 2 T 0.33024C 0.66976TT 0.110937TC/CT 0.438614CC 0.450449pop=14,026
Other T 0.2308C 0.7692TT 0.055275TC/CT 0.351147CC 0.593578pop=8,720
Other Asian T 0.1841C 0.8159TT 0.034904TC/CT 0.298429CC 0.666667pop=1,146
South Asian T 0.207C 0.793TT 0.047826TC/CT 0.317391CC 0.634783pop=460

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