CHROMOSOME 6 SLC22A3 6q25.3 GENE VIEW SLC22A3 · 6q25.3 6q24 6q26 rs7758229 — ~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 rs7758229 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

rs7758229

Gene: SLC22A3 — Solute Carrier Family 22 Member 3 Chr 6:160419220 6q25.3 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.706566T 0.293434GG 0.505526GT/TG 0.402079TT 0.092395pop=749,868
African G 0.903T 0.097GG 0.816722GT/TG 0.172561TT 0.010717pop=62,146
African American G 0.90137T 0.09863GG 0.813598GT/TG 0.175537TT 0.010865pop=60,010
African Others G 0.949T 0.051GG 0.904494GT/TG 0.088951TT 0.006554pop=2,136
Asian G 0.75104T 0.24896GG 0.566209GT/TG 0.369672TT 0.064119pop=16,750
East Asian G 0.76041T 0.23959GG 0.580599GT/TG 0.359621TT 0.059779pop=12,680
European G 0.680064T 0.319936GG 0.464252GT/TG 0.431625TT 0.104123pop=601,230
Latin American 1 G 0.77844T 0.22156GG 0.606591GT/TG 0.343691TT 0.049718pop=10,620
Latin American 2 G 0.7801T 0.2199GG 0.614815GT/TG 0.330568TT 0.054617pop=20,250
Other G 0.72728T 0.27272GG 0.538695GT/TG 0.377179TT 0.084126pop=30,288
Other Asian G 0.7219T 0.2781GG 0.521376GT/TG 0.400983TT 0.077641pop=4,070
South Asian G 0.7183T 0.2817GG 0.525163GT/TG 0.3863TT 0.088537pop=8,584

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