Genetics Genetics Research
CHROMOSOME 6 SLC22A1 6q25.3 GENE VIEW SLC22A1 · 6q25.3 6q24 6q26 rs628031 — ~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 rs628031 Methionine 408 → Leucine A / C · SLC22A1 · 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

rs628031

Methionine 408 → Leucine Gene: SLC22A1 — Solute Carrier Family 22 Member 1 Chr 6:160139813 6q25.3 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.381785G 0.618215AA 0.150632AG/GA 0.462304GG 0.387064pop=783,645 ↬
African A 0.2713G 0.7287AA 0.076495AG/GA 0.389594GG 0.533911pop=63,195
African American A 0.27232G 0.72768AA 0.076936AG/GA 0.390745GG 0.532319pop=60,987
African Others A 0.2432G 0.7568AA 0.064312AG/GA 0.35779GG 0.577899pop=2,208
Asian A 0.26435G 0.73565AA 0.072326AG/GA 0.384055GG 0.543619pop=17,034
East Asian A 0.26G 0.74AA 0.068504AG/GA 0.382999GG 0.548498pop=12,846
European A 0.404111G 0.595889AA 0.165298AG/GA 0.477626GG 0.357076pop=627,592
Latin American 1 A 0.32151G 0.67849AA 0.105831AG/GA 0.431365GG 0.462804pop=10,942
Latin American 2 A 0.21528G 0.78472AA 0.051507AG/GA 0.327556GG 0.620938pop=20,308
Other A 0.35787G 0.64213AA 0.133549AG/GA 0.448652GG 0.417799pop=35,912
Other Asian A 0.2777G 0.7223AA 0.08405AG/GA 0.387297GG 0.528653pop=4,188
South Asian A 0.3668G 0.6332AA 0.142692AG/GA 0.448164GG 0.409143pop=8,662

Studies0

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