Genetics Genetics Research
CHROMOSOME 6 SLC22A1 6q25.3 GENE VIEW SLC22A1 · 6q25.3 6q24 6q26 rs1564348 — ~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 rs1564348 T / A · SLC22A1 · 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

rs1564348

Gene: SLC22A1 — Solute Carrier Family 22 Member 1 Chr 6:160157828 6q25.3
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.846285C 0.153715TT 0.717415TC/CT 0.25774CC 0.024845pop=736,572 ↬
African T 0.88958C 0.11042TT 0.79031TC/CT 0.198542CC 0.011148pop=61,176
African American T 0.88921C 0.11079TT 0.789622TC/CT 0.199174CC 0.011204pop=59,084
African Others T 0.9001C 0.0999TT 0.809751TC/CT 0.180688CC 0.00956pop=2,092
Asian T 0.994C 0.006TT 0.98836TC/CT 0.011287CC 0.000353pop=17,010
East Asian T 0.99837C 0.00163TT 0.99674TC/CT 0.00326CC 0pop=12,884
European T 0.840542C 0.159458TT 0.70658TC/CT 0.267924CC 0.025496pop=590,690
Latin American 1 T 0.8441C 0.1559TT 0.716458TC/CT 0.255188CC 0.028354pop=9,734
Latin American 2 T 0.75367C 0.24633TT 0.570759TC/CT 0.365823CC 0.063418pop=22,612
Other T 0.86181C 0.13819TT 0.746478TC/CT 0.230665CC 0.022857pop=26,688
Other Asian T 0.9804C 0.0196TT 0.962191TC/CT 0.036355CC 0.001454pop=4,126
South Asian T 0.8385C 0.1615TT 0.703764TC/CT 0.269453CC 0.026784pop=8,662

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