Genetics Genetics Research
CHROMOSOME 6 SLC22A1 6q25.3 GENE VIEW SLC22A1 · 6q25.3 6q24 6q26 rs622342 — ~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 rs622342 C / A · SLC22A1 · 6q25.3 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

rs622342

Gene: SLC22A1 — Solute Carrier Family 22 Member 1 Chr 6:160151834 6q25.3
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.341599A 0.658401CC 0.120068CA/AC 0.443063AA 0.43687pop=611,056 ↬
African C 0.19385A 0.80615CC 0.03673CA/AC 0.314232AA 0.649038pop=54,342
African American C 0.19527A 0.80473CC 0.037219CA/AC 0.316097AA 0.646684pop=52,446
African Others C 0.1545A 0.8455CC 0.023207CA/AC 0.262658AA 0.714135pop=1,896
Asian C 0.17901A 0.82099CC 0.03547CA/AC 0.287087AA 0.677443pop=10,826
East Asian C 0.1641A 0.8359CC 0.030453CA/AC 0.267233AA 0.702314pop=8,472
European C 0.363892A 0.636108CC 0.132718CA/AC 0.462348AA 0.404934pop=493,996
Latin American 1 C 0.3045A 0.6955CC 0.091708CA/AC 0.425517AA 0.482775pop=8,418
Latin American 2 C 0.3593A 0.6407CC 0.132876CA/AC 0.452858AA 0.414266pop=17,776
Other C 0.30139A 0.69861CC 0.093048CA/AC 0.416676AA 0.490276pop=17,174
Other Asian C 0.2328A 0.7672CC 0.053526CA/AC 0.358539AA 0.587935pop=2,354
South Asian C 0.2789A 0.7211CC 0.081417CA/AC 0.394885AA 0.523698pop=8,524

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