Genetics Genetics Research
CHROMOSOME 13 HTR2A 13q14.2 GENE VIEW HTR2A · 13q14.2 13q13 13q15 rs6314 — ~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 rs6314 Histidine 452 → Tyrosine G / A · HTR2A · 13q14.2 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

rs6314

Histidine 452 → Tyrosine Gene: HTR2A — 5-Hydroxytryptamine Receptor 2A Chr 13:46834899 13q14.2
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.908303A 0.091697GG 0.825489GA/AG 0.165629AA 0.008882pop=593,532 ↬
African G 0.87307A 0.12693GG 0.762553GA/AG 0.22103AA 0.016416pop=64,326
African American G 0.87365A 0.12635GG 0.76354GA/AG 0.220213AA 0.016248pop=62,040
African Others G 0.8574A 0.1426GG 0.735783GA/AG 0.24322AA 0.020997pop=2,286
Asian G 0.99634A 0.00366GG 0.992685GA/AG 0.007315AA 0pop=10,116
East Asian G 0.9984A 0.0016GG 0.996748GA/AG 0.003252AA 0pop=7,996
European G 0.910208A 0.089792GG 0.828586GA/AG 0.163245AA 0.008169pop=460,498
Latin American 1 G 0.8903A 0.1097GG 0.791429GA/AG 0.197805AA 0.010766pop=9,474
Latin American 2 G 0.94276A 0.05724GG 0.888977GA/AG 0.107563AA 0.00346pop=20,230
Other G 0.90769A 0.09231GG 0.824462GA/AG 0.166461AA 0.009076pop=22,696
Other Asian G 0.9887A 0.0113GG 0.977358GA/AG 0.022642AA 0pop=2,120
South Asian G 0.906A 0.094GG 0.824289GA/AG 0.163437AA 0.012274pop=6,192

Studies0

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