Genetics Genetics Research
CHROMOSOME 13 HTR2A 13q14.2 GENE VIEW HTR2A · 13q14.2 13q13 13q15 rs7997012 — ~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 rs7997012 A / C · HTR2A · 13q14.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs7997012

Gene: HTR2A — 5-Hydroxytryptamine Receptor 2A Chr 13:46837850 13q14.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.373341G 0.626659AA 0.153902AG/GA 0.438879GG 0.407219pop=340,750 ↬
African A 0.07644G 0.92356AA 0.005288AG/GA 0.142312GG 0.8524pop=39,336
African American A 0.0791G 0.9209AA 0.005499AG/GA 0.1472GG 0.847301pop=37,826
African Others A 0.0099G 0.9901AA 0AG/GA 0.019868GG 0.980132pop=1,510
Asian A 0.2337G 0.7663AA 0.057208AG/GA 0.353027GG 0.589765pop=9,614
East Asian A 0.2215G 0.7785AA 0.050219AG/GA 0.342519GG 0.607262pop=7,766
European A 0.42465G 0.57535AA 0.181986AG/GA 0.485328GG 0.332686pop=270,724
Latin American 1 A 0.2939G 0.7061AA 0.083333AG/GA 0.421141GG 0.495526pop=3,576
Latin American 2 A 0.329G 0.671AA 0.108558AG/GA 0.440835GG 0.450608pop=7,572
Other A 0.34G 0.66AA 0.127557AG/GA 0.42496GG 0.447483pop=8,702
Other Asian A 0.2852G 0.7148AA 0.08658AG/GA 0.397186GG 0.516234pop=1,848
South Asian A 0.4062G 0.5938AA 0.151713AG/GA 0.508972GG 0.339315pop=1,226

Studies0

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