Genetics Genetics Research
CHROMOSOME X HTR2C Xq23 GENE VIEW HTR2C · Xq23 Xq22 Xq24 rs518147 — ~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 rs518147 C / A · HTR2C · Xq23 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

rs518147

Gene: HTR2C — 5-Hydroxytryptamine Receptor 2C Chr X:114584109 Xq23 5 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.51469G 0.48531CC 0.435929CG/GC 0.157528GG 0.406543pop=13,204 ↬
African C 0.5149G 0.4851CC 0.393533CG/GC 0.242831GG 0.363636pop=3,278
African American C 0.5181G 0.4819CC 0.397078CG/GC 0.242058GG 0.360864pop=3,148
African Others C 0.438G 0.562CC 0.307692CG/GC 0.261538GG 0.430769pop=130
Asian C 0.67G 0.33CC 0.666667CG/GC 0GG 0.333333pop=12
East Asian C 0.8G 0.2CC 0.75CG/GC 0GG 0.25pop=8
European C 0.502G 0.498CC 0.436059CG/GC 0.131796GG 0.432144pop=9,196
Latin American 1 C 0.455G 0.545CC 0.4CG/GC 0.109091GG 0.490909pop=110
Latin American 2 C 0.634G 0.366CC 0.571429CG/GC 0.125714GG 0.302857pop=350
Other C 0.807G 0.193CC 0.77193CG/GC 0.070175GG 0.157895pop=228
Other Asian C 0.5G 0.5CC 0.5CG/GC 0GG 0.5pop=4
South Asian C 0.93G 0.07CC 0.933333CG/GC 0GG 0.066667pop=30

Studies0

Unread Studies0 ▼

No new studies.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.