Genetics Genetics Research
CHROMOSOME 6 SLC22A1 6q25.3 GENE VIEW SLC22A1 · 6q25.3 6q24 6q26 rs34130495 — ~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 rs34130495 Glycine 401 → Serine G / A · SLC22A1 · 6q25.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs34130495

Glycine 401 → Serine Gene: SLC22A1 — Solute Carrier Family 22 Member 1 Chr 6:160139792 6q25.3
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies10

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Total G 0.977914A 0.022086GG 0.956428GA/AG 0.042972AA 0.0006pop=626,502 ↬
African G 0.99513A 0.00487GG 0.990304GA/AG 0.009658AA 0.000037pop=53,426
African American G 0.99495A 0.00505GG 0.989946GA/AG 0.010016AA 0.000039pop=51,520
Asian G 0.99934A 0.00066GG 0.998805GA/AG 0.001075AA 0.000119pop=16,742
European G 0.974449A 0.025551GG 0.949612GA/AG 0.049675AA 0.000713pop=496,268
Latin American 1 G 0.9852A 0.0148GG 0.971195GA/AG 0.028084AA 0.00072pop=8,332
Latin American 2 G 0.98919A 0.01081GG 0.978776GA/AG 0.020833AA 0.000391pop=15,360
Other G 0.9822A 0.0178GG 0.964575GA/AG 0.035241AA 0.000184pop=32,576
Other Asian G 0.9973A 0.0027GG 0.995131GA/AG 0.004382AA 0.000487pop=4,108
South Asian G 0.9955A 0.0045GG 0.991048GA/AG 0.008952AA 0pop=3,798

Studies0

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