Genetics Genetics Research
CHROMOSOME 6 SLC22A3 6q25.3 GENE VIEW SLC22A3 · 6q25.3 6q24 6q26 rs2048327 — ~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 rs2048327 T / A · SLC22A3 · 6q25.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs2048327

Gene: SLC22A3 — Solute Carrier Family 22 Member 3 Chr 6:160442500 6q25.3 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.658691C 0.341309TT 0.442408TC/CT 0.432567CC 0.125026pop=709,694 ↬
African T 0.91031C 0.08969TT 0.830511TC/CT 0.159606CC 0.009883pop=60,712
African American T 0.90787C 0.09213TT 0.825971TC/CT 0.163796CC 0.010233pop=58,634
African Others T 0.9793C 0.0207TT 0.958614TC/CT 0.041386CC 0pop=2,078
Asian T 0.54228C 0.45772TT 0.297412TC/CT 0.489734CC 0.212854pop=16,462
East Asian T 0.5467C 0.4533TT 0.305049TC/CT 0.483304CC 0.211647pop=12,398
European T 0.640302C 0.359698TT 0.41085TC/CT 0.458904CC 0.130246pop=565,530
Latin American 1 T 0.6973C 0.3027TT 0.490932TC/CT 0.412819CC 0.096249pop=9,704
Latin American 2 T 0.49947C 0.50053TT 0.253388TC/CT 0.492154CC 0.254458pop=22,432
Other T 0.64616C 0.35384TT 0.428789TC/CT 0.434743CC 0.136468pop=26,204
Other Asian T 0.5288C 0.4712TT 0.274114TC/CT 0.50935CC 0.216535pop=4,064
South Asian T 0.7239C 0.2761TT 0.534566TC/CT 0.378728CC 0.086705pop=8,650

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