CHROMOSOME 6 SLC22A3 6q25.3 GENE VIEW SLC22A3 · 6q25.3 6q24 6q26 rs402219 — ~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 rs402219 A / C · SLC22A3 · 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

rs402219

Gene: SLC22A3 — Solute Carrier Family 22 Member 3 Chr 6:160368264 6q25.3 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total A 0.703137G 0.296863AA 0.498269AG/GA 0.409736GG 0.091995pop=677,602
African A 0.83108G 0.16892AA 0.691883AG/GA 0.278387GG 0.02973pop=55,096
African American A 0.83029G 0.16971AA 0.690415AG/GA 0.279755GG 0.02983pop=53,168
African Others A 0.8527G 0.1473AA 0.732365AG/GA 0.240664GG 0.026971pop=1,928
Asian A 0.59709G 0.40291AA 0.363615AG/GA 0.466949GG 0.169436pop=16,974
East Asian A 0.58619G 0.41381AA 0.351305AG/GA 0.469761GG 0.178934pop=12,798
European A 0.699466G 0.300534AA 0.490737AG/GA 0.417457GG 0.091806pop=543,126
Latin American 1 A 0.6836G 0.3164AA 0.475458AG/GA 0.416263GG 0.108279pop=9,494
Latin American 2 A 0.59506G 0.40494AA 0.357441AG/GA 0.475231GG 0.167328pop=19,662
Other A 0.67612G 0.32388AA 0.460828AG/GA 0.43059GG 0.108582pop=29,434
Other Asian A 0.6305G 0.3695AA 0.401341AG/GA 0.458333GG 0.140326pop=4,176
South Asian A 0.664G 0.336AA 0.444969AG/GA 0.438155GG 0.116876pop=3,816

Studies4

Unread Studies4
1
… Finally, intronic variant rs402219-G, inside the solute carrier family 22 member 3 gene (SLC22A3) is genetically associated to another monocyte-related inflammatory marker; 19,20 …
2
PID
Previous studies showed that PHACTR1 and SLC22A3 are involved in coronary vascular development and are key determinants of cardiovascular disease risk. We conducted a case-control study to examine the effect of SLC22A3 and PHACTR1 single nucleotide polymorphisms (SNPs) on CAD risk among 376 male CAD patients and 388 male healthy controls from China. Eleven SLC22A3 and PHACTR1 SNPs were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age. The rs9381439 minor allele “A” (OR = 0.72; 95% CI = 0.54–0.96; p = 0.024) in an allelic model was associated with reduced CAD risk, as were the rs2048327 “C/C” (OR = 0.60; 95% CI: 0.37–0.97; p = 0.036) and rs1810126 “T/T” (OR = 0.58; 95% CI: 0.36–0.93; p = 0.024) genotypes. Likewise, the rs9349379 “A/G” genotype in a dominant model ( p = 0.041), the rs1810126 “T/C” genotype in additive ( p = 0.041) and recessive ( p = 0.012) models, and the rs2048327 “C/T” genotype in a recessive model were associated with decreased CAD risk ( p = 0.016). These results suggest several PHACTR1 and SLC22A3 polymorphisms are associated with decreased CAD risk in the male Chinese Han population.
3
Several bone marrow–derived cell populations may have angiogenic activity, including cells termed endothelial progenitor cells. Decreased numbers of circulating …
4
(Asian) 0.5 rs4936433 11 1E+ 08 A_23_P104819 TREH 11 1E+ 08 1E+ 08 0.5193 2.03 E-15 0.5 rs654792 11 1E+ 08 A_23_P104819 TREH 11 1E+ 08 1E+ 08-0.5017 1.29 E-12 …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0

No unused studies.