Tag

Ancestry-Specific

42 genetic variants with this tag.

RSID	Gene	Description	Category
rs104895467	NOD2 NOD2 N852S	Rare NOD2 missense variant (Asn852Ser) that impairs innate immune sensing of ...	IBD & Mucosal Immunity	Ancestry-Specific	Strong
rs121965064	F11 Phe301Leu (Type III)	Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i...	Coagulation & Clotting Factors	Ancestry-Specific	Established
rs121907892	SLC22A12 W258X	Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, c...	Uric Acid & Kidney Function	Ancestry-Specific	Strong
rs2200733	PITX2 PITX2 4q25 AF susceptibility variant	Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal ...	Arrhythmia & Heart Rhythm	Ancestry-Specific	Strong
rs12734494	SLC30A1	Intergenic variant near SLC30A1 (ZnT1), the primary basolateral zinc exporter...	Vitamins & Nutrient Absorption	Ancestry-Specific	Emerging
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	Ancestry-Specific	Moderate
rs147647315	SLC22A12 URAT1 R90H	Missense variant in URAT1 reducing urate reabsorption in the kidney, causing ...	Uric Acid & Kidney Function	Ancestry-Specific	Strong
rs145946881	MCM6 -14010G>C	African lactase persistence variant — MCM6 enhancer SNP that controls LCT exp...	Vitamins & Nutrient Absorption	Ancestry-Specific	Strong
rs201408742	GPR174	X-linked intergenic variant near GPR174 (G protein-coupled receptor 174), a l...	TNF, NF-kB & Inflammatory Cytokines	Ancestry-Specific	Emerging
rs1871534	SLC39A4 Leu372Val	Common missense variant in the primary intestinal zinc transporter ZIP4; the ...	Vitamins & Nutrient Absorption	Ancestry-Specific	Strong
rs201227603	HPS3 HPS3 Splice Donor Variant	Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansk...	Innate Immunity & Infection Defense	Ancestry-Specific	Established
rs184660829	DENND2C	Rare intronic variant near a DENND2C splice site associated with an 8-fold in...	Appetite & Obesity	Ancestry-Specific	Moderate
rs705117	GC	Intronic GC variant independently associated with vitamin D binding protein (...	Vitamin D Metabolism	Ancestry-Specific	Strong
rs1805762	M6PR	Intronic M6PR variant associated with modest hypertension risk in East Asian ...	Coronary Artery Disease & Atherosclerosis	Ancestry-Specific	Emerging
rs35333564	MIR4300HG AIS Progression Locus (intron 1 enhancer indel)	Intronic indel in the MIR4300 host gene that reduces enhancer activity and MI...	Innate Immunity & Infection Defense	Ancestry-Specific	Moderate
rs2488457	PTPN22	Promoter variant in PTPN22 that alters gene expression and modulates autoimmu...	Autoimmune Tolerance & T-Cell Regulation	Ancestry-Specific	Moderate
rs28940578	MEFV M694I	Exon 10 missense variant in the inflammasome regulator pyrin, converting meth...	TNF, NF-kB & Inflammatory Cytokines	Ancestry-Specific	Strong
rs28940579	MEFV V726A	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Ancestry-Specific	Strong
rs13429458	THADA THADA PCOS/T2D Variant	Intronic variant in THADA, a gene encoding a calcium channel-regulating prote...	Blood Sugar & Diabetes	Ancestry-Specific	Moderate
rs28940580	MEFV M680I	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Ancestry-Specific	Strong
rs3743930	MEFV E148Q	Exon 2 missense variant in the inflammasome regulator pyrin; the most common ...	TNF, NF-kB & Inflammatory Cytokines	Ancestry-Specific	Moderate
rs498422	LOC101929163 LOC101929163 Variant	Intronic variant in TSBP1-AS1 (LOC101929163), a non-coding antisense RNA in t...	Endometriosis & Uterine Health	Ancestry-Specific	Emerging
rs73885316	APOL1 p.N264K	Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxic...	Uric Acid & Kidney Function	Ancestry-Specific	Strong
rs41380347	MCM6 G-13915T	East African lactase persistence allele — MCM6 enhancer SNP that independentl...	Vitamins & Nutrient Absorption	Ancestry-Specific	Strong
rs2070676	CYP2E1	Intronic CYP2E1 variant tagging the *1B haplotype; C allele marks reduced CYP...	Pharmacogenomics	Ancestry-Specific	Moderate
rs1884613	HNF4A HNF4A P2 Promoter T2D Variant	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s...	Blood Sugar & Diabetes	Ancestry-Specific	Moderate
rs2280275	CYP2J2	Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) p...	Pharmacogenomics	Ancestry-Specific	Moderate
rs2233580	PAX4 Arg192His	Missense variant that impairs PAX4's ability to repress insulin and glucagon ...	Blood Sugar & Diabetes	Ancestry-Specific	Strong
rs3211883	CD36	Intronic CD36 variant associated with altered body adiposity and platelet CD3...	Triglycerides & Fatty Acids	Ancestry-Specific	Moderate
rs73885319	APOL1 G1 S342G	APOL1 G1 kidney disease risk variant — missense change that evolved for trypa...	Cholesterol & Lipoproteins	Ancestry-Specific	Established
rs28371706	CYP2D6 *17	Decreased-function CYP2D6 allele common in African populations, reducing meta...	Pharmacogenomics	Ancestry-Specific	Established
rs76992529	TTR Val142Ile (V142I)	Most common amyloidogenic TTR variant in African Americans, causing late-onse...	Cardiomyopathy & Structural Heart	Ancestry-Specific	Established
rs28371733	CYP2D6	Rare CYP2D6 stop-gain variant (Glu418Ter) that eliminates enzyme activity, ca...	Pharmacogenomics	Ancestry-Specific	Established
rs28399444	CYP2A6 *7 (I471T)	CYP2A6*7 missense variant that nearly abolishes nicotine C-oxidase activity; ...	Pharmacogenomics	Ancestry-Specific	Established
rs4810424	R3HDML R3HDML rs4810424	Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri...	Fat Storage & Energy	Ancestry-Specific	Moderate
rs391300	SRR SRR rs391300	Intronic variant in serine racemase that alters D-serine production in pancre...	Blood Sugar & Diabetes	Ancestry-Specific	Moderate
rs5030868	G6PD G6PD Mediterranean	Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ...	Blood Sugar & Diabetes	Ancestry-Specific	Established
rs4646438	CYP3A4 *6 (17776insA / frameshift)	Frameshift insertion in CYP3A4 exon 9 that produces a truncated, non-function...	Pharmacogenomics	Ancestry-Specific	Strong
rs55785340	CYP3A4 *2	Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva...	Pharmacogenomics	Ancestry-Specific	Moderate
rs76723693	G6PD G6PD Nefza (c.968T>C)	Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ...	Blood Sugar & Diabetes	Ancestry-Specific	Strong
rs58440431	CYP2D6	Intronic CYP2D6 variant tagging East Asian *10-lineage suballeles; the C alle...	Pharmacogenomics	Ancestry-Specific	Strong
rs72547517	CYP1A2 *8	CYP1A2*8 — near-complete loss-of-function missense variant causing severely r...	Pharmacogenomics	Ancestry-Specific	Strong