Table 1.
rs4293393 | Documented in Archaic Humansa | Frequencyb | UMOD Expression | Urinary Uromodulin Levels | GWAS CKD, Hypertension | GWAS Kidney Stones | Potential Role for UTI | Potential Selective Pressure |
---|---|---|---|---|---|---|---|---|
Ancestral T allele | No | 0.80 | High | High | Risk (higher >65 yr)c | Protective | Protective | Positive or Neutral |
Derived C allele | Yes | 0.20 | Low | Low | Protective (higher >65 yr)c | Risk | Deleterious | Negative or Neutral |
References | 19 | 16,19 | 12–14,17,18,80,81 | 18 |