Genetics Genetics Research
CHROMOSOME 6 SLC22A3 6q25.3 GENE VIEW SLC22A3 · 6q25.3 6q24 6q26 rs2292334 — ~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 rs2292334 G / A · SLC22A3 · 6q25.3 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

rs2292334

Gene: SLC22A3 — Solute Carrier Family 22 Member 3 Chr 6:160437156 6q25.3
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.655519A 0.344481GG 0.436284GA/AG 0.438469AA 0.125247pop=771,598 ↬
African G 0.85819A 0.14181GG 0.737703GA/AG 0.24097AA 0.021328pop=70,706
African American G 0.85639A 0.14361GG 0.734532GA/AG 0.243712AA 0.021756pop=68,302
African Others G 0.9093A 0.0907GG 0.827787GA/AG 0.163062AA 0.009151pop=2,404
Asian G 0.54369A 0.45631GG 0.298551GA/AG 0.490269AA 0.21118pop=14,490
East Asian G 0.54971A 0.45029GG 0.30776GA/AG 0.483899AA 0.208341pop=11,366
European G 0.638569A 0.361431GG 0.408644GA/AG 0.459849AA 0.131507pop=615,132
Latin American 1 G 0.67347A 0.32653GG 0.458325GA/AG 0.43028AA 0.111394pop=10,198
Latin American 2 G 0.50671A 0.49329GG 0.261202GA/AG 0.491011AA 0.247788pop=21,470
Other G 0.65963A 0.34037GG 0.447752GA/AG 0.423753AA 0.128495pop=30,834
Other Asian G 0.5218A 0.4782GG 0.265045GA/AG 0.513444AA 0.221511pop=3,124
South Asian G 0.7242A 0.2758GG 0.535128GA/AG 0.378193AA 0.086679pop=8,768

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