Genetics Genetics Research
CHROMOSOME X HTR2C Xq23 GENE VIEW HTR2C · Xq23 Xq22 Xq24 rs3813929 — ~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 rs3813929 C / G · HTR2C · Xq23 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs3813929

Gene: HTR2C — 5-Hydroxytryptamine Receptor 2C Chr X:114584047 Xq23 2KB upstream variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.869365T 0.130635CC 0.815556CT/TC 0.107607TT 0.076838pop=176,530 ↬
African C 0.96896T 0.03104CC 0.952954CT/TC 0.032005TT 0.015041pop=35,375
African American C 0.968T 0.032CC 0.95159CT/TC 0.032801TT 0.015608pop=34,089
African Others C 0.9946T 0.0054CC 0.989114CT/TC 0.010886TT 0pop=1,286
Asian C 0.888T 0.112CC 0.85446CT/TC 0.068075TT 0.077465pop=852
East Asian C 0.884T 0.116CC 0.85241CT/TC 0.063253TT 0.084337pop=664
European C 0.840311T 0.159689CC 0.774571CT/TC 0.13145TT 0.093979pop=119,914
Latin American 1 C 0.8896T 0.1104CC 0.842295CT/TC 0.094923TT 0.062782pop=6,660
Latin American 2 C 0.8546T 0.1454CC 0.812931CT/TC 0.083333TT 0.103736pop=6,966
Other C 0.8618T 0.1382CC 0.79945CT/TC 0.124427TT 0.076124pop=6,547
Other Asian C 0.904T 0.096CC 0.861702CT/TC 0.085106TT 0.053191pop=188
South Asian C 0.694T 0.306CC 0.657407CT/TC 0.074074TT 0.268519pop=216

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