Genetics Genetics Research
CHROMOSOME 6 SLC22A3 6q25.3 GENE VIEW SLC22A3 · 6q25.3 6q24 6q26 rs9364554 — ~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 rs9364554 C / T · SLC22A3 · 6q25.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs9364554

Gene: SLC22A3 — Solute Carrier Family 22 Member 3 Chr 6:160412632 6q25.3 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.74337T 0.25663CC 0.557508CT/TC 0.371723TT 0.070769pop=715,340 ↬
African C 0.93322T 0.06678CC 0.87196CT/TC 0.122528TT 0.005512pop=59,872
African American C 0.93159T 0.06841CC 0.868855CT/TC 0.125479TT 0.005666pop=57,890
African Others C 0.9808T 0.0192CC 0.962664CT/TC 0.036327TT 0.001009pop=1,982
Asian C 0.66115T 0.33885CC 0.440126CT/TC 0.442043TT 0.117832pop=11,474
East Asian C 0.6672T 0.3328CC 0.447702CT/TC 0.43895TT 0.113348pop=9,140
European C 0.722725T 0.277275CC 0.523191CT/TC 0.399067TT 0.077741pop=586,252
Latin American 1 C 0.8206T 0.1794CC 0.677281CT/TC 0.286589TT 0.03613pop=9,798
Latin American 2 C 0.78894T 0.21106CC 0.627222CT/TC 0.323428TT 0.04935pop=15,076
Other C 0.75693T 0.24307CC 0.578897CT/TC 0.356059TT 0.065045pop=24,906
Other Asian C 0.6375T 0.3625CC 0.410454CT/TC 0.454156TT 0.13539pop=2,334
South Asian C 0.7306T 0.2694CC 0.542577CT/TC 0.376036TT 0.081387pop=7,962

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