Genetics Genetics Research
CHROMOSOME 6 SLC22A1 6q25.3 GENE VIEW SLC22A1 · 6q25.3 6q24 6q26 rs2282143 — ~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 rs2282143 Proline 341 → Glutamine 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

rs2282143

Proline 341 → Glutamine Gene: SLC22A1 — Solute Carrier Family 22 Member 1 Chr 6:160136611 6q25.3 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.976426T 0.023574CC 0.954011CT/TC 0.044829TT 0.00116pop=703,432 ↬
African C 0.93521T 0.06479CC 0.874591CT/TC 0.121228TT 0.00418pop=70,330
African American C 0.93551T 0.06449CC 0.875162CT/TC 0.120688TT 0.00415pop=67,944
African Others C 0.9267T 0.0733CC 0.85834CT/TC 0.13663TT 0.005029pop=2,386
Asian C 0.87496T 0.12504CC 0.766568CT/TC 0.216789TT 0.016642pop=13,580
East Asian C 0.8614T 0.1386CC 0.742548CT/TC 0.237705TT 0.019747pop=10,736
European C 0.985211T 0.014789CC 0.970729CT/TC 0.028965TT 0.000306pop=555,022
Latin American 1 C 0.9674T 0.0326CC 0.936347CT/TC 0.062031TT 0.001622pop=9,866
Latin American 2 C 0.96141T 0.03859CC 0.925209CT/TC 0.072399TT 0.002392pop=18,398
Other C 0.97459T 0.02541CC 0.950293CT/TC 0.048599TT 0.001109pop=32,470
Other Asian C 0.9262T 0.0738CC 0.857243CT/TC 0.137834TT 0.004923pop=2,844
South Asian C 0.9302T 0.0698CC 0.868295CT/TC 0.123739TT 0.007966pop=3,766

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