Genetics Genetics Research
CHROMOSOME 6 SLC22A2 6q25.3 GENE VIEW SLC22A2 · 6q25.3 6q24 6q26 rs316019 — ~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 rs316019 Serine 270 → Alanine A / C · SLC22A2 · 6q25.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs316019

Serine 270 → Alanine Gene: SLC22A2 — Solute Carrier Family 22 Member 2 Chr 6:160249250 6q25.3 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.106683C 0.893317AA 0.012068AC/CA 0.189229CC 0.798703pop=797,120 ↬
African A 0.15086C 0.84914AA 0.023525AC/CA 0.254661CC 0.721815pop=70,054
African American A 0.15097C 0.84903AA 0.023772AC/CA 0.254391CC 0.721838pop=67,644
African Others A 0.1477C 0.8523AA 0.016598AC/CA 0.262241CC 0.721162pop=2,410
Asian A 0.11592C 0.88408AA 0.014093AC/CA 0.20365CC 0.782257pop=17,314
East Asian A 0.11413C 0.88587AA 0.013166AC/CA 0.201929CC 0.784905pop=13,064
European A 0.102606C 0.897394AA 0.010837AC/CA 0.183538CC 0.805625pop=631,728
Latin American 1 A 0.12657C 0.87343AA 0.017704AC/CA 0.21774CC 0.764556pop=10,958
Latin American 2 A 0.06102C 0.93898AA 0.003456AC/CA 0.115138CC 0.881406pop=20,254
Other A 0.10422C 0.89578AA 0.01203AC/CA 0.184387CC 0.803583pop=38,072
Other Asian A 0.1214C 0.8786AA 0.016941AC/CA 0.208941CC 0.774118pop=4,250
South Asian A 0.1206C 0.8794AA 0.018307AC/CA 0.204577CC 0.777117pop=8,740

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