Tag
Ancestry-Specific
18 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs2200733 | PITX2 PITX2 4q25 AF susceptibility variant | Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal ... | Arrhythmia & Heart Rhythm | Strong | |
| rs121965064 | F11 Phe301Leu (Type III) | Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i... | Coagulation & Clotting Factors | Established | |
| rs121907892 | SLC22A12 W258X | Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, c... | Uric Acid & Kidney Function | Strong | |
| rs1310182 | PTPN22 PTPN22 Intron Variant (c.2054-852T>C) | Intronic PTPN22 variant in a transcription factor-binding site, associated wi... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs73885316 | APOL1 p.N264K | Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxic... | Uric Acid & Kidney Function | Strong | |
| rs28940578 | MEFV M694I | Exon 10 missense variant in the inflammasome regulator pyrin, converting meth... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs498422 | LOC101929163 LOC101929163 Variant | Intronic variant in TSBP1-AS1 (LOC101929163), a non-coding antisense RNA in t... | Endometriosis & Uterine Health | Emerging | |
| rs41380347 | MCM6 G-13915T | East African lactase persistence allele — MCM6 enhancer SNP that independentl... | Vitamins & Nutrient Absorption | Strong | |
| rs73885319 | APOL1 G1 S342G | APOL1 G1 kidney disease risk variant — missense change that evolved for trypa... | Cholesterol & Lipoproteins | Established | |
| rs76992529 | TTR Val142Ile (V142I) | Most common amyloidogenic TTR variant in African Americans, causing late-onse... | Cardiomyopathy & Structural Heart | Established | |
| rs2233580 | PAX4 Arg192His | Missense variant that impairs PAX4's ability to repress insulin and glucagon ... | Blood Sugar & Diabetes | Strong | |
| rs2280275 | CYP2J2 | Intronic variant in CYP2J2 | Pharmacogenomics | Moderate | |
| rs28371706 | CYP2D6 *17 | Decreased-function CYP2D6 allele common in African populations, reducing meta... | Pharmacogenomics | Established | |
| rs391300 | SRR SRR rs391300 | Intronic variant in serine racemase that alters D-serine production in pancre... | Blood Sugar & Diabetes | Moderate | |
| rs5030868 | G6PD G6PD Mediterranean | Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ... | Blood Sugar & Diabetes | Established | |
| rs76723693 | G6PD G6PD Nefza (c.968T>C) | Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ... | Blood Sugar & Diabetes | Strong | |
| rs55785340 | CYP3A4 *2 | Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva... | Pharmacogenomics | Moderate | |
| rs72547517 | CYP1A2 *8 | CYP1A2*8 — near-complete loss-of-function missense variant causing severely r... | Pharmacogenomics | Strong |