Genetics Genetics Research
CHROMOSOME 13 HTR2A 13q14.2 GENE VIEW HTR2A · 13q14.2 13q13 13q15 rs6311 — ~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 rs6311 C / A · HTR2A · 13q14.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs6311

Gene: HTR2A — 5-Hydroxytryptamine Receptor 2A Chr 13:46897343 13q14.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.588617T 0.411383CC 0.34874CT/TC 0.479754TT 0.171507pop=478,804 ↬
African C 0.61203T 0.38797CC 0.375847CT/TC 0.472367TT 0.151786pop=51,388
African American C 0.61119T 0.38881CC 0.375005CT/TC 0.47236TT 0.152635pop=49,530
African Others C 0.6346T 0.3654CC 0.398278CT/TC 0.472551TT 0.129171pop=1,858
Asian C 0.4374T 0.5626CC 0.194375CT/TC 0.486042TT 0.319583pop=9,600
East Asian C 0.445T 0.555CC 0.198636CT/TC 0.492784TT 0.30858pop=7,622
European C 0.587598T 0.412402CC 0.346714CT/TC 0.481767TT 0.171518pop=382,338
Latin American 1 C 0.5746T 0.4254CC 0.329853CT/TC 0.489396TT 0.18075pop=6,130
Latin American 2 C 0.65015T 0.34985CC 0.424336CT/TC 0.451622TT 0.124041pop=13,560
Other C 0.5648T 0.4352CC 0.329616CT/TC 0.470467TT 0.199917pop=9,684
Other Asian C 0.408T 0.592CC 0.177958CT/TC 0.460061TT 0.361982pop=1,978
South Asian C 0.6083T 0.3917CC 0.37156CT/TC 0.47346TT 0.15498pop=6,104

Studies0

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