Genetic Deep Dive Report
Comprehensive Analysis for Walter Sanders
Key Highlights
Smoking & Lung Health
Heart & Cardiovascular Health
Brain & Neurological Health
Cancer Risk Variants
Metabolism & Weight Management
Pharmacogenomics - Drug Metabolism
Immune System Function
Vitamins & Nutrient Metabolism
Aging & Longevity
Physical Traits
Carrier Status - Recessive Conditions
Eye Health & Vision
Connective Tissue & Joints
Migraine & Pain Sensitivity
Cognitive Performance
Detoxification & Oxidative Stress
Digestive & Organ Health
Sleep & Circadian Rhythm
Restless Legs & Movement Disorders
Hormones & Reproductive Health
Advanced Lipid Metabolism
Ancestry Composition
Continental Breakdown
High-level geographic grouping of your ancestry percentages.
European Ancestry — Detailed Breakdown
Your European DNA further separates into distinct regional populations, each with its own genetic signature shaped by millennia of migration and settlement.
Regional Deep Dives
Nearly half your genome traces to populations of the British Isles and Ireland. This genetic cluster is shaped by waves of migration: Mesolithic hunter-gatherers who arrived ~10,000 years ago, Neolithic farmers from Anatolia (~4000 BCE), Bell Beaker peoples carrying steppe ancestry (~2500 BCE), and later influxes from Anglo-Saxons (5th-6th century), Vikings (8th-11th century), and Normans (1066 CE).
Key genetic markers place your British ancestry primarily in England and lowland Scotland, with lesser signals from Ireland and Wales. The high percentage suggests multiple ancestral lines converging in the British Isles over several generations.
Genetic signatures detected: Strong LD patterns consistent with English/lowland Scots reference panels. Elevated IBD sharing with modern populations in the English Midlands and Yorkshire regions.
About one-fifth of your genome carries Eastern European genetic signatures. This population cluster spans a broad geographic region from Poland and the Baltics through Ukraine, Belarus, and into western Russia. The genetic profile is shaped by Slavic expansion (5th-7th century CE), earlier Bronze Age steppe migrations, and Corded Ware culture influence (~3000 BCE).
Your Eastern European segments show the highest affinity to Polish and Ukrainian reference populations, with moderate similarity to Czech and Slovak panels. This likely reflects ancestral lines from the historical regions of Galicia, Volhynia, or the Polish-Lithuanian Commonwealth.
Notable markers: Elevated frequency of alleles common in Slavic-speaking populations. Some segments show extended haplotypes shared with Baltic populations (Latvian/Lithuanian), consistent with geographic proximity and historical gene flow.
This component reflects ancestry from the broad Franco-Germanic cultural and genetic zone of Western Europe. Populations in this cluster were shaped by Celtic tribal origins, Roman Empire admixture, Frankish and Germanic tribal migrations (3rd-6th century CE), and medieval population movements.
Your segments show the strongest signal toward the Germanic side of this cluster — particularly regions of the Rhineland, Bavaria, Alsace-Lorraine, and northern Switzerland. Given historical migration patterns, this component likely represents ancestral lines from German-speaking populations who migrated to the British Isles or to Eastern Europe during various waves of settlement.
Historical context: French & German ancestry is often underestimated because it overlaps significantly with both British and Scandinavian genetic profiles. The 13.8% represents segments that are distinctly Franco-Germanic after accounting for shared ancestry.
Your Scandinavian component reflects ancestry from the Nordic countries — Denmark, Norway, Sweden, and Iceland. This population was shaped by Norse expansion during the Viking Age (793-1066 CE), earlier Germanic Iron Age developments, and relative genetic isolation in the Scandinavian peninsula.
The 6.1% suggests a genuine Scandinavian ancestral line rather than shared deep ancestry with Germanic peoples. This is consistent with Viking settlement in England (the Danelaw), intermarriage during Norse rule of parts of Scotland and Ireland, or a direct Scandinavian immigrant ancestor within your genealogy.
Specific signals: Segments most closely match Danish and southern Swedish reference panels. Viking-era DNA studies show extensive mixing between Norse settlers and local British populations — your Scandinavian segments likely entered through this historical pathway.
Ashkenazi Jewish ancestry is one of the most genetically identifiable population clusters in the world due to centuries of endogamy (marriage within the community). The founding population experienced a severe bottleneck roughly 600-800 years ago, reducing effective population to approximately 350 individuals before rapid expansion.
Your 4.3% is consistent with having one Ashkenazi Jewish great-great-grandparent or equivalent distant ancestry. This component carries a mix of Levantine (Middle Eastern) and Southern European genetic origins, reflecting the community's ancient roots in the Roman-era Mediterranean before migration to the Rhineland and later to Eastern Europe.
Health relevance: Ashkenazi ancestry is associated with elevated carrier frequencies for certain recessive conditions (Tay-Sachs, Gaucher disease, BRCA1/2 founder mutations). Your carrier status section contains Ashkenazi-relevant screening. At 4.3% ancestry, carrier risk is substantially lower than in individuals with full Ashkenazi heritage, but still worth noting.
Population genetics note: The endogamous signature makes Ashkenazi ancestry detectable even at low percentages with high confidence. Your segments show characteristic long runs of homozygosity (ROH) patterns typical of this founder population.
Finnish (0.5%): Finns are genetically distinct from other Europeans due to a population bottleneck ~4,000 years ago and subsequent isolation. Your small Finnish component could reflect shared deep ancestry with Baltic/Scandinavian populations, or genuine trace Finnish ancestry through Eastern European genealogical lines (common in regions bordering Finland like Estonia and the Karelian isthmus).
Northern Indian & Pakistani (0.2%): This trace amount is at the edge of detection and could represent: (a) a genuine very distant South Asian ancestor, possibly through the Romani diaspora which carried South Asian DNA into Europe starting ~1,000 years ago; (b) shared Indo-European steppe ancestry that links both European and South Asian populations through ancient Bronze Age migrations (~3500 BCE); or (c) statistical noise. At 0.2%, the confidence interval is wide, but it was detected in multiple independent analyses.
Haplogroup Analysis
Haplogroups trace direct maternal (mtDNA) and paternal (Y-chromosome) lineages back tens of thousands of years. Unlike autosomal ancestry, these follow a single line of descent.
Haplogroup V is a relatively rare European maternal lineage, found in only ~4% of Europeans. It originated approximately 12,000-16,000 years ago in the Iberian Peninsula or Southern France during the late Upper Paleolithic, making you a direct maternal descendant of post-Ice Age southwestern European refugia populations.
Migration path: After the Last Glacial Maximum (~20,000 years ago), populations carrying haplogroup V expanded northward as ice sheets retreated. Today, V reaches its highest frequencies among the Sami people of northern Scandinavia (~40-65%), Basques of Spain (~10-20%), and Cantabrian coast populations. Its presence in the British Isles dates to Mesolithic recolonization (~9,000 BCE).
Notable carriers: Ben Franklin is believed to have carried haplogroup V. The haplogroup has been found in ancient Mesolithic remains from sites in Spain and France, confirming its deep European roots.
Parent clade: V descends from haplogroup HV, which branched from the R0 macro-haplogroup. HV is one of the oldest European-specific haplogroups, originating in the Near East ~25,000-30,000 years ago before migrating into Europe.
L48
R-L48 is a subclade of R1b, the single most common Y-chromosome haplogroup in Western Europe, carried by ~50-80% of men in Western European countries. R-L48 specifically falls within the U106 (S21) branch, which is associated with Germanic-speaking populations and reached its highest historical frequencies in the North Sea coastal regions.
Origins: The R1b lineage traces back to Yamnaya steppe pastoralists who migrated into Europe from the Pontic-Caspian steppe ~4,500-5,000 years ago during the Bronze Age. These migrations are associated with the spread of Indo-European languages and the dramatic genetic turnover of Neolithic European populations. The U106/L48 branch diverged ~3,500-4,000 years ago, likely in Central Europe.
Geographic distribution: R-L48 peaks in the Netherlands, northwestern Germany, Denmark, and England — a distribution strongly correlated with historical Germanic tribal territories (Saxons, Angles, Jutes, Frisians). Its high frequency in England (~15-20% of R1b men) is attributable to Anglo-Saxon migration in the 5th-6th centuries CE.
Downstream SNPs: Further Y-STR analysis could refine your position within L48. Common downstream branches include Z9, Z331, and Z18 — each associated with more specific geographic regions and migration events within the Germanic world.
Ancestry-Informative SNP Markers
These specific genetic variants helped determine your ancestry percentages. Each has dramatically different allele frequencies across global populations, making them powerful tools for population assignment.
Ancient Ancestry Components
Modern Europeans derive from three major ancient source populations. Ancient DNA studies now allow us to estimate the proportion of each in your genome.
Archaic Hominin Ancestry
All non-African humans carry ~1.5-4% Neanderthal DNA, inherited from interbreeding events ~50,000-60,000 years ago when anatomically modern humans first encountered Neanderthals in the Near East and Europe. Your 2.1% is average for someone of European ancestry.
What Neanderthal DNA does: Neanderthal variants in modern humans have been linked to: immune system function (HLA alleles that improved pathogen defense), skin and hair characteristics (keratin genes adapted to cold climates), fat metabolism, pain sensitivity, and sleep chronotype. Some Neanderthal variants are beneficial, while others are associated with slightly increased risk for conditions like depression, blood clotting, and nicotine addiction.
Neanderthal deserts: Despite 2.1% overall, Neanderthal DNA is not evenly distributed across your genome. Certain regions — particularly around genes involved in brain development and male fertility — are "Neanderthal deserts" where natural selection has actively purged archaic DNA over the past 50,000 years.
Complete SNP Variants Database
| SNP ID | Gene | Description | Genotype | Significance |
|---|---|---|---|---|
rs10033464 |
4q25/PITX2 | Atrial fibrillation | G/G |
Typical |
rs10033900 |
CFI | AMD complement factor I | C/T |
Notable |
rs1006737 |
CACNA1C | Bipolar/depression | A/G |
Notable |
rs10166942 |
TRPM8 | Migraine cold receptor | T/T |
Typical |
rs10246939 |
TAS2R38 | Bitter taste PTC/PROP | C/T |
Notable |
rs1041983 |
NAT2 | C282T | T/T |
Typical |
rs1042522 |
TP53 | Arg72Pro | C/C |
Typical |
rs1042602 |
TYR | Freckling S192Y | C/C |
Typical |
rs1042713 |
ADRB2 | Gly16Arg beta-2 | A/A |
Typical |
rs1042714 |
ADRB2 | Gln27Glu beta-2 | C/C |
Typical |
rs1042725 |
HMGA2 | Height | T/T |
Typical |
rs10455872 |
LPA | Lp(a) | A/A |
Typical |
rs1047891 |
CPS1 | Carbamoyl phosphate synthetase - urea cycle | C/C |
Typical |
rs10483727 |
SIX6 | Primary open-angle glaucoma | C/T |
Notable |
rs10490924 |
ARMS2/HTRA1 | Age-related macular degeneration | G/G |
Typical |
rs1050450 |
GPX1 | Glutathione peroxidase Pro198Leu | A/A |
Typical |
rs10509681 |
CYP2C8 | *3 drug metabolism | T/T |
Typical |
rs1051730 |
CHRNA3 | Nicotine dependence / lung cancer | A/G |
Notable |
rs1051740 |
EPHX1 | Epoxide hydrolase Tyr113His | T/C |
Notable |
rs1057910 |
CYP2C9 | *3 warfarin | A/A |
Typical |
rs1061170 |
CFH | AMD complement factor H Y402H | C/T |
Notable |
rs1065852 |
CYP2D6 | *10 drug metabolism | G/G |
Typical |
rs10741657 |
CYP2R1 | Vitamin D 25-hydroxylase | G/A |
Notable |
rs10757274 |
9p21 | CAD risk | A/A |
Elevated Risk |
rs10757278 |
9p21 | CAD risk | A/A |
Elevated Risk |
rs10784502 |
HMGA2 | Intracranial volume / height | T/T |
Typical |
rs1079597 |
DRD2 | Alcohol/dopamine TaqIB | T/T |
Typical |
rs10811661 |
CDKN2A/B | T2D | T/C |
Notable |
rs10830963 |
MTNR1B | Melatonin receptor | C/C |
Typical |
rs10838725 |
CELF1 | Alzheimer's | C/T |
Notable |
rs10896449 |
11q13 | Prostate cancer | G/A |
Notable |
rs10936599 |
TERC | Telomere length | T/T |
Typical |
rs10938397 |
GNPDA2 | BMI | G/A |
Notable |
rs10948363 |
CD2AP | Alzheimer's | A/A |
Typical |
rs10993994 |
MSMB | Prostate cancer | T/T |
Typical |
rs10994336 |
ANK3 | Bipolar | C/C |
Typical |
rs110402 |
CRHR1 | Stress response/HPA axis | G/G |
Typical |
rs1107946 |
COL1A1 | Collagen / tendon injury | C/C |
Typical |
rs1111875 |
HHEX | T2D beta-cell | C/C |
Typical |
rs11136000 |
CLU | Alzheimer's | T/C |
Notable |
rs11172113 |
LRP1 | Migraine | T/T |
Typical |
rs11200638 |
HTRA1 | AMD promoter | G/G |
Typical |
rs11206510 |
PCSK9 | LDL/CAD risk | C/T |
Notable |
rs11218343 |
SORL1 | Alzheimer's | T/T |
Typical |
rs1122608 |
LDLR | LDL receptor | G/T |
Notable |
rs1128503 |
ABCB1 | P-gp C1236T | G/G |
Typical |
rs1137101 |
LEPR | Leptin receptor sensitivity | G/A |
Notable |
rs1138272 |
GSTP1 | Glutathione S-transferase Ala114Val | C/C |
Typical |
rs1142345 |
TPMT | *3C thiopurine | T/T |
Typical |
rs1143634 |
IL-1B | +3954C/T | G/G |
Typical |
rs1144566 |
PER2 | Circadian | C/C |
Typical |
rs11547464 |
MC1R | R142H | G/G |
Typical |
rs1160312 |
AR/EDA2R | Baldness | A/A |
Typical |
rs11708067 |
ADCY5 | Fasting glucose / T2D | A/A |
Typical |
rs11803731 |
TCHH | Hair curl/texture | A/A |
Typical |
rs11868035 |
SREBF1 | Parkinson's | G/A |
Notable |
rs11887534 |
ABCG8 | Gallstone risk D19H | G/G |
Elevated Risk |
rs11931074 |
SNCA | Parkinson's | G/G |
Typical |
rs1205 |
CRP | C-reactive protein | C/C |
Typical |
rs1208 |
NAT2 | A803G | A/A |
Typical |
rs1219648 |
FGFR2 | Breast cancer | G/A |
Notable |
rs12203592 |
IRF4 | Freckling/hair color | T/C |
Notable |
rs12248560 |
CYP2C19 | *17 ultra-rapid | C/T |
Notable |
rs12255372 |
TCF7L2 | T2D | T/G |
Notable |
rs12413409 |
CYP17A1 | CAD risk | A/G |
Notable |
rs12526453 |
PHACTR1 | CAD risk | C/C |
Elevated Risk |
rs1260326 |
GCKR | NAFLD/triglycerides | T/C |
Notable |
rs12649507 |
ARNTL/BMAL1 | Master circadian gene | G/A |
Notable |
rs12722 |
COL5A1 | Tendon/ligament injury risk | C/C |
Elevated Risk |
rs12740374 |
SORT1/CELSR2 | LDL cholesterol | G/G |
Typical |
rs12777823 |
CYP2C8 | Drug metabolism | G/G |
Typical |
rs12785878 |
DHCR7 | Vitamin D synthesis | G/T |
Notable |
rs12807809 |
NRGN | Schizophrenia cognition | T/T |
Typical |
rs12821256 |
KITLG | Blond hair | T/T |
Typical |
rs12896399 |
SLC24A4 | Eye/hair color | G/G |
Typical |
rs12927162 |
MTNR1B | Melatonin | A/A |
Typical |
rs12934922 |
BCMO1 | Beta-carotene>vitA | A/T |
Notable |
rs12979860 |
IFNL3/IL28B | Hep C response | C/C |
Typical |
rs13181 |
ERCC2/XPD | Lys751Gln DNA repair | T/T |
Typical |
rs13266634 |
SLC30A8 | T2D zinc transport | C/C |
Typical |
rs13281615 |
8q24 | Breast cancer | G/A |
Notable |
rs13329952 |
UMOD | CKD | T/T |
Typical |
rs1333049 |
9p21 | CAD risk | G/G |
Elevated Risk |
rs13387042 |
2q35 | Breast cancer | G/A |
Notable |
rs1344706 |
ZNF804A | Working memory / connectivity | A/A |
Typical |
rs1387153 |
MTNR1B | Fasting glucose | C/C |
Typical |
rs1393350 |
TYR | Eye/freckling R402Q | A/G |
Notable |
rs1410996 |
CFH | AMD | G/A |
Notable |
rs1414334 |
HTR2C | Antipsychotic metabolic syndrome | G/G |
Typical |
rs1421085 |
FTO | Causal variant | C/T |
Notable |
rs1426654 |
SLC24A5 | Skin pigment A111T | A/A |
Typical |
rs1447295 |
8q24 | Prostate cancer | C/C |
Typical |
rs144848 |
BRCA2 | N372H common variant | A/A |
Typical |
rs1495741 |
NAT2 | Tag SNP | A/A |
Typical |
rs1532085 |
LIPC | HDL/triglycerides | G/G |
Typical |
rs1544410 |
VDR | BsmI | C/C |
Typical |
rs1545843 |
ABCB1 | Blood-brain barrier drug transport | G/A |
Notable |
rs1558902 |
FTO | Obesity | A/T |
Notable |
rs1611115 |
DBH | Dopamine beta-hydroxylase | C/C |
Typical |
rs1613662 |
GP6 | Platelet glycoprotein VI | G/A |
Notable |
rs165599 |
COMT | 3'UTR | A/A |
Typical |
rs16891982 |
SLC45A2 | Skin pigmentation L374F | G/G |
Typical |
rs16901979 |
8q24 | Prostate cancer | C/C |
Typical |
rs16944 |
IL-1B | -511C/T | G/G |
Typical |
rs16947 |
CYP2D6 | *2 | G/G |
Typical |
rs1695 |
GSTP1 | Ile105Val detox | A/G |
Notable |
rs16969968 |
CHRNA5 | Nicotine dependence A1573G | A/G |
Notable |
rs17070145 |
KIBRA/WWC1 | Episodic memory | T/C |
Notable |
rs1726866 |
TAS2R38 | Bitter taste | G/A |
Notable |
rs174546 |
FADS1 | Omega-3/6 | C/T |
Notable |
rs174547 |
FADS1 | Omega-3/6 | T/C |
Notable |
rs1746048 |
CXCL12 | CAD risk | C/C |
Elevated Risk |
rs17465637 |
MIA3 | CAD risk | C/C |
Elevated Risk |
rs17646946 |
FGFR2 | Hair morphology | G/G |
Typical |
rs17782313 |
MC4R | Obesity/appetite | T/T |
Typical |
rs17822931 |
ABCC11 | Earwax wet/dry | C/C |
Typical |
rs17879961 |
CHEK2 | Breast/prostate cancer I157T | A/A |
Typical |
rs1799782 |
XRCC1 | Arg194Trp DNA repair | G/G |
Typical |
rs1799853 |
CYP2C9 | *2 warfarin | C/C |
Typical |
rs1799930 |
NAT2 | G590A | A/A |
Typical |
rs1799931 |
NAT2 | G857A | G/G |
Typical |
rs1799945 |
HFE | H63D | G/C |
Notable |
rs1799971 |
OPRM1 | Alcohol reward | A/A |
Typical |
rs1799977 |
MLH1 | Mismatch repair | G/G |
Typical |
rs1800012 |
COL1A1 | Bone density Sp1 | C/C |
Typical |
rs1800056 |
ATM | DNA repair / cancer susceptibility | T/T |
Elevated Risk |
rs1800407 |
OCA2 | Eye color modifier | T/C |
Notable |
rs1800414 |
OCA2 | East Asian pigmentation | T/T |
Typical |
rs1800460 |
TPMT | *3B thiopurine | C/C |
Typical |
rs1800470 |
TGF-beta1 | Leu10Pro | A/A |
Typical |
rs1800471 |
TGF-beta1 | Arg25Pro | C/C |
Typical |
rs1800472 |
TGFB1 | Connective tissue / fibrosis | G/G |
Typical |
rs1800497 |
DRD2/ANKK1 | Taq1A dopamine D2 | G/A |
Notable |
rs1800544 |
ADRA2A | Stress-related eating | C/C |
Typical |
rs1800562 |
HFE | C282Y | G/G |
Typical |
rs1800566 |
NQO1 | NAD(P)H quinone oxidoreductase Pro187Ser | G/G |
Typical |
rs1800588 |
LIPC | HDL cholesterol | C/T |
Notable |
rs1800592 |
UCP1 | Thermogenesis -3826A/G | T/T |
Typical |
rs1800629 |
TNF-alpha | -308G/A | G/G |
Typical |
rs1800730 |
HFE | S65C | A/A |
Typical |
rs1800734 |
MLH1 | Lynch syndrome promoter | G/G |
Typical |
rs1800775 |
CETP | HDL cholesterol | A/C |
Notable |
rs1800777 |
CETP | HDL subfraction | G/A |
Notable |
rs1800795 |
IL-6 | Longevity/inflammation | G/C |
Notable |
rs1800871 |
IL-10 | Anti-inflammatory -819C/T | G/G |
Typical |
rs1800872 |
IL-10 | -592C/A | G/G |
Typical |
rs1800896 |
IL-10 | -1082G/A | C/C |
Typical |
rs1800925 |
IL-13 | Asthma promoter | C/C |
Typical |
rs1801020 |
F12 | Factor XII 46C>T | G/G |
Typical |
rs1801131 |
MTHFR | A1298C | T/T |
Typical |
rs1801133 |
MTHFR | C677T | A/G |
Notable |
rs1801198 |
TCN2 | Vitamin B12 transport | G/G |
Typical |
rs1801253 |
ADRB1 | Beta-1 receptor Arg389Gly | C/G |
Notable |
rs1801260 |
CLOCK | Circadian T3111C | A/A |
Typical |
rs1801280 |
NAT2 | T341C | T/T |
Typical |
rs1801282 |
PPARG | Pro12Ala insulin sensitivity | G/G |
Typical |
rs1801394 |
MTRR | A66G methionine synthase reductase | G/A |
Notable |
rs1801516 |
ATM | DNA repair D1853N | G/G |
Typical |
rs1801725 |
CASR | Calcium sensing receptor A986S | G/G |
Typical |
rs1805005 |
MC1R | V60L | T/G |
Notable |
rs1805007 |
MC1R | R151C | C/C |
Typical |
rs1805008 |
MC1R | R160W | C/C |
Typical |
rs1805087 |
MTR | A2756G methionine synthase | A/A |
Typical |
rs1815739 |
ACTN3 | R577X sprint/endurance | C/T |
Notable |
rs1859962 |
17q24 | Prostate cancer | T/T |
Typical |
rs187238 |
IL-18 | Inflammasome -137G/C | C/C |
Typical |
rs1979277 |
SHMT1 | Serine hydroxymethyltransferase | G/G |
Typical |
rs2052129 |
ABP1/AOC1 | Diamine oxidase expression | T/T |
Typical |
rs20541 |
IL-13 | Asthma/allergy R130Q | G/G |
Typical |
rs2062377 |
TNFRSF11B/OPG | Osteoporosis protection | T/A |
Notable |
rs2066844 |
NOD2/CARD15 | Crohn's disease R702W | C/C |
Typical |
rs2066845 |
NOD2/CARD15 | Crohn's disease G908R | G/G |
Typical |
rs2066865 |
FGG | Fibrinogen gamma | G/G |
Typical |
rs2069763 |
IL-2 | Immune regulation -330T/G | C/C |
Typical |
rs2069837 |
IL-6 | Longevity | A/A |
Typical |
rs2070744 |
NOS3/eNOS | T-786C vasodilation | T/C |
Notable |
rs2075650 |
TOMM40/APOE | Longevity / cognitive aging | A/A |
Typical |
rs2104286 |
IL2RA | MS/T1D | C/T |
Notable |
rs2106261 |
ZFHX3 | Atrial fibrillation | C/C |
Typical |
rs2157719 |
CDKN2B-AS1 | Glaucoma / 9p21 | C/C |
Typical |
rs2165241 |
LOXL1 | Exfoliation glaucoma | T/T |
Typical |
rs2180439 |
Xq12/AR | Male pattern baldness | T/T |
Typical |
rs2187668 |
HLA-DQ2.5 | Celiac disease | C/C |
Typical |
rs219780 |
CLDN14 | Kidney stones / calcium | C/T |
Notable |
rs219781 |
CLDN14 | Kidney stones | G/T |
Notable |
rs2200733 |
4q25/PITX2 | Atrial fibrillation | C/T |
Notable |
rs2227982 |
PD-1/PDCD1 | Immune checkpoint - autoimmune/cancer | G/G |
Typical |
rs2228479 |
MC1R | V92M | G/G |
Typical |
rs2228570 |
VDR | Vitamin D FokI | A/A |
Typical |
rs2228671 |
LDLR | LDL receptor | C/T |
Notable |
rs2229940 |
GAD1 | Glutamic acid decarboxylase / GABA | T/T |
Typical |
rs2230806 |
ABCA1 | HDL / Tangier disease carrier | C/C |
Typical |
rs2231142 |
ABCG2 | Uric acid/gout Q141K | G/G |
Typical |
rs2234693 |
ESR1 | Estrogen receptor alpha PvuII | T/T |
Typical |
rs2234922 |
EPHX1 | Epoxide hydrolase His139Arg | A/G |
Notable |
rs2235067 |
ABCB1 | Blood-brain barrier transport | C/C |
Typical |
rs2236225 |
MTHFD1 | G1958A folate | A/A |
Typical |
rs2241423 |
MAP2K5 | BMI | G/G |
Typical |
rs2243250 |
IL-4 | Th1/Th2 balance -590C/T | C/C |
Typical |
rs2274316 |
MEF2D | Migraine | C/A |
Notable |
rs2274333 |
CA6 | Bitter taste / taste bud trophic factor | A/A |
Typical |
rs2274432 |
CABLES1 | Height / Mendelian randomization | G/A |
Notable |
rs2279343 |
CYP2B6 | *4 | A/G |
Notable |
rs2282679 |
GC | Vitamin D/bone | G/T |
Notable |
rs228697 |
PER3 | Period circadian 3 | C/C |
Typical |
rs2287780 |
TCN2 | B12 cellular uptake | C/C |
Typical |
rs234706 |
CBS | C699T homocysteine | A/A |
Typical |
rs2395029 |
HLA-B*5701 | Abacavir hypersensitivity | T/T |
Typical |
rs240736 |
COL11A1 | Disc degeneration | A/A |
Typical |
rs2472297 |
CYP1A2 | Caffeine consumption GWAS | C/C |
Typical |
rs2476601 |
PTPN22 | Autoimmune R620W | G/G |
Typical |
rs2505083 |
KIAA1462 | CAD risk | T/T |
Elevated Risk |
rs2542052 |
CETP | HDL/longevity | A/C |
Notable |
rs25487 |
XRCC1 | Arg399Gln DNA repair | T/T |
Typical |
rs2606345 |
CYP1A1 | Aryl hydrocarbon response | A/C |
Notable |
rs2651899 |
PRDM16 | Migraine susceptibility | T/T |
Elevated Risk |
rs27072 |
SLC6A3/DAT1 | Dopamine transporter | C/C |
Typical |
rs2735839 |
KLK3/PSA | PSA levels | G/G |
Typical |
rs2736100 |
TERT | Telomere length | A/A |
Typical |
rs2740574 |
CYP3A4 | *1B promoter | T/T |
Typical |
rs2794520 |
CRP | C-reactive protein | C/C |
Typical |
rs279858 |
GABRA2 | Alcohol dependence | T/T |
Typical |
rs2802292 |
FOXO3 | Longevity | G/T |
Notable |
rs28371706 |
CYP2D6 | *17 | G/G |
Typical |
rs28399499 |
CYP2D6 | *14 | T/T |
Typical |
rs28399504 |
CYP2C19 | *4 poor metabolizer | A/A |
Typical |
rs2867125 |
TMEM18 | BMI | C/C |
Typical |
rs28777 |
SLC45A2 | Skin/hair pigmentation | A/A |
Typical |
rs28834970 |
PTK2B | Alzheimer's | T/T |
Typical |
rs28933389 |
BCHE | Succinylcholine sensitivity | G/G |
Typical |
rs2910164 |
MIR146A | Psoriasis / autoimmune | G/C |
Notable |
rs2943641 |
IRS1 | Insulin resistance | T/C |
Notable |
rs2981582 |
FGFR2 | Breast cancer | A/G |
Notable |
rs3025343 |
DBH | Smoking cessation response | G/G |
Typical |
rs3135388 |
HLA-DRB1*1501 | Multiple sclerosis | G/G |
Typical |
rs3184504 |
SH2B3 | T1D/BP | T/T |
Typical |
rs3212227 |
IL-12B | Th1 immunity | T/T |
Typical |
rs328 |
LPL | Triglycerides S447X | C/C |
Typical |
rs33972313 |
SLC23A1 | Vitamin C transport | C/T |
Notable |
rs340874 |
PROX1 | Fasting glucose | C/C |
Typical |
rs34637584 |
LRRK2 | Parkinson's G2019S | G/G |
Typical |
rs35264875 |
TPCN2 | Hair color | A/A |
Typical |
rs356219 |
SNCA | Parkinson's | A/G |
Notable |
rs361525 |
TNF-alpha | -238G/A | G/G |
Typical |
rs363050 |
SNAP25 | Cognitive performance / ADHD | A/G |
Notable |
rs3736228 |
LRP5 | Bone density | C/C |
Typical |
rs3745274 |
CYP2B6 | *6 efavirenz/bupropion | G/T |
Notable |
rs3764261 |
CETP | HDL cholesterol | C/C |
Typical |
rs3764650 |
ABCA7 | Alzheimer's | T/T |
Typical |
rs3791679 |
EFEMP1 | Height | A/G |
Notable |
rs3798220 |
LPA | Lp(a) / MI risk | T/T |
Elevated Risk |
rs3803304 |
AKT1 | Insulin signaling / longevity | G/G |
Typical |
rs3803662 |
TOX3 | Breast cancer | G/G |
Typical |
rs3825942 |
LOXL1 | Exfoliation glaucoma | G/G |
Typical |
rs3851179 |
PICALM | Alzheimer's | C/C |
Typical |
rs3865444 |
CD33 | Alzheimer's | C/C |
Typical |
rs3890182 |
ABCA1 | HDL | G/A |
Notable |
rs3892097 |
CYP2D6 | *4 drug metabolism | C/C |
Typical |
rs3918290 |
DPYD | 5-FU toxicity IVS14+1G>A | C/C |
Typical |
rs3923809 |
BTBD9 | Restless legs syndrome | G/G |
Typical |
rs4148323 |
UGT1A1 | Gilbert/irinotecan | G/G |
Typical |
rs4149056 |
SLCO1B1 | Statin myopathy *5 | T/T |
Typical |
rs4149268 |
ABCA1 | HDL biogenesis | C/T |
Notable |
rs4244285 |
CYP2C19 | *2 clopidogrel | G/G |
Typical |
rs4245791 |
ABCG8 | Gallstone risk | C/T |
Notable |
rs4293393 |
UMOD | CKD/kidney function | A/A |
Typical |
rs429358 |
APOE | APOE4 determinant | T/T |
Typical |
rs4343 |
ACE | ACE activity | G/A |
Notable |
rs4402960 |
IGF2BP2 | T2D | G/T |
Notable |
rs4410790 |
AHR | Aryl hydrocarbon receptor - caffeine metabolism | C/T |
Notable |
rs4420638 |
APOE/APOC1 | LDL/Alzheimer's | A/A |
Typical |
rs4430796 |
HNF1B | Prostate cancer | G/G |
Typical |
rs4481887 |
OR2M7 | Asparagus anosmia | A/A |
Typical |
rs4506565 |
TCF7L2 | T2D/immune | T/A |
Notable |
rs4570625 |
TPH2 | Serotonin synthesis G-703T | G/G |
Typical |
rs4588 |
GC | VDBP Thr436Lys | T/G |
Notable |
rs4607517 |
GCK | Glucokinase / fasting glucose | G/G |
Typical |
rs4633 |
COMT | Haplotype | T/T |
Typical |
rs4656461 |
TMCO1 | Glaucoma | G/A |
Notable |
rs4680 |
COMT | Pain sensitivity | A/A |
Typical |
rs4693075 |
ADAMTS5 | Osteoarthritis | C/G |
Notable |
rs4778241 |
OCA2 | Eye color | C/C |
Typical |
rs4779584 |
15q13 | Colorectal cancer | C/C |
Typical |
rs4820268 |
TMPRSS6 | Iron | A/G |
Notable |
rs4833095 |
NPR3 | Height | T/C |
Notable |
rs4880 |
SOD2/MnSOD | Superoxide dismutase Ala16Val - oxidative stress | G/A |
Notable |
rs489693 |
MC4R | Antipsychotic weight gain | C/C |
Typical |
rs4939827 |
SMAD7 | Colorectal cancer | C/C |
Typical |
rs4950928 |
CHI3L1 | Asthma/YKL-40 | C/C |
Typical |
rs4961 |
ADD1 | Salt sensitivity | T/G |
Notable |
rs4977574 |
9p21 | CAD risk | A/A |
Elevated Risk |
rs4986790 |
TLR4 | Innate immunity Asp299Gly | A/A |
Typical |
rs4986791 |
TLR4 | Innate immunity Thr399Ile | C/C |
Typical |
rs4986852 |
BRCA1 | DNA repair / detox | C/C |
Typical |
rs4986893 |
CYP2C19 | *3 poor metabolizer | G/G |
Typical |
rs4986938 |
ESR2 | Estrogen receptor beta | C/T |
Notable |
rs4994 |
ADRB3 | Beta-3 adrenergic Trp64Arg | A/A |
Typical |
rs5015480 |
HHEX | T2D | C/C |
Typical |
rs515135 |
APOB | LDL cholesterol | C/T |
Notable |
rs5186 |
AGTR1 | Angiotensin receptor | A/A |
Typical |
rs5219 |
KCNJ11 | E23K T2D/sulfonylurea | C/C |
Typical |
rs53576 |
OXTR | Oxytocin receptor | G/A |
Notable |
rs5370 |
EDN1 | Endothelin | T/G |
Notable |
rs543874 |
SEC16B | BMI | G/A |
Notable |
rs5443 |
GNB3 | G-protein beta-3 C825T - ED risk | C/C |
Elevated Risk |
rs560887 |
G6PC2 | Fasting glucose | T/C |
Notable |
rs571312 |
MC4R | Obesity | C/C |
Typical |
rs572169 |
GDF5 | Height/joint | C/C |
Typical |
rs578776 |
CHRNA3 | Smoking behavior | G/G |
Typical |
rs58542926 |
TM6SF2 | NAFLD/liver | C/C |
Typical |
rs5882 |
CETP | HDL/longevity | G/A |
Notable |
rs588765 |
CHRNA5 | Nicotine dependence | C/T |
Notable |
rs5918 |
ITGB3 | PlA2 platelet | T/T |
Typical |
rs599839 |
SORT1 | LDL cholesterol | A/A |
Typical |
rs601338 |
FUT2 | Secretor/norovirus | A/G |
Notable |
rs6025 |
F5 | Factor V Leiden | C/C |
Typical |
rs602662 |
FUT2 | B12 absorption | A/G |
Notable |
rs6060373 |
GHR | Growth hormone receptor | A/G |
Notable |
rs610932 |
MS4A6A | Alzheimer's | T/G |
Notable |
rs6152 |
AR | Androgen receptor baldness | A/A |
Typical |
rs6166 |
FSHR | FSH receptor Asn680Ser | T/T |
Typical |
rs622342 |
OCT1/SLC22A1 | Metformin/morphine transport | A/A |
Typical |
rs6265 |
BDNF | Val66Met | C/C |
Typical |
rs6269 |
COMT | Pain haplotype | A/A |
Typical |
rs6277 |
DRD2 | C957T receptor binding | A/G |
Notable |
rs6295 |
HTR1A | 5-HT1A C-1019G | C/G |
Notable |
rs6311 |
HTR2A | 5-HT2A -1438A/G | C/T |
Notable |
rs6313 |
HTR2A | 5-HT2A T102C | G/A |
Notable |
rs6314 |
HTR2A | 5-HT2A His452Tyr - clozapine response | G/G |
Typical |
rs6440003 |
ZBTB38 | Height | G/G |
Typical |
rs6457617 |
HLA-DQB1 | Rheumatoid arthritis | T/T |
Typical |
rs646776 |
SORT1 | LDL cholesterol | T/T |
Typical |
rs6495308 |
CHRNA3 | Smoking quantity | T/T |
Typical |
rs6548238 |
TMEM18 | BMI | C/C |
Typical |
rs6591536 |
OR2J3 | Cis-3-hexen-1-ol (grass smell) | A/A |
Typical |
rs662799 |
APOA5 | Triglycerides | A/A |
Typical |
rs6656401 |
CR1 | Alzheimer's | G/G |
Typical |
rs6691170 |
1q41 | Colorectal cancer | G/T |
Notable |
rs671 |
ALDH2 | *2 alcohol flush | G/G |
Typical |
rs67376798 |
DPYD | 5-FU toxicity D949V | T/T |
Typical |
rs6746030 |
SCN9A | Pain sensitivity R1150W | G/G |
Typical |
rs6922269 |
MTHFD1L | CAD risk | G/G |
Elevated Risk |
rs6983267 |
8q24 | Prostate/colorectal | T/T |
Typical |
rs699 |
AGT | Angiotensinogen | G/G |
Typical |
rs7025486 |
DAB2IP | Abdominal aortic aneurysm | G/G |
Typical |
rs7041 |
GC | VDBP | A/C |
Notable |
rs710446 |
KNG1 | Coagulation | C/T |
Notable |
rs713598 |
TAS2R38 | Bitter taste | C/C |
Typical |
rs7193343 |
ZFHX3 | Atrial fibrillation | C/C |
Typical |
rs7216389 |
ORMDL3/GSDMB | Asthma 17q21 | T/C |
Notable |
rs72921001 |
OR6A2 | Cilantro aversion | C/C |
Typical |
rs7294919 |
TESC/HRK | Hippocampal volume | T/T |
Typical |
rs731236 |
VDR | TaqI | A/A |
Typical |
rs73598374 |
ADA | Deep sleep Asp8Asn | C/C |
Typical |
rs738409 |
PNPLA3 | NAFLD I148M | C/C |
Typical |
rs7412 |
APOE | APOE2 determinant | C/T |
Notable |
rs744373 |
BIN1 | Alzheimer's | A/A |
Typical |
rs7454108 |
HLA-DQ8 | Celiac/T1D | T/T |
Typical |
rs7501331 |
BCMO1 | Beta-carotene>vitA | C/C |
Typical |
rs7555523 |
TXNRD2 | Glaucoma | C/A |
Notable |
rs7578597 |
THADA | T2D | T/T |
Typical |
rs762551 |
CYP1A2 | *1F caffeine | C/A |
Notable |
rs7668282 |
RYR1 | Malignant hyperthermia susceptibility | T/T |
Elevated Risk |
rs7675998 |
NAF1 | Telomere length | G/G |
Typical |
rs7679673 |
TET2 | Prostate cancer | C/C |
Typical |
rs7756992 |
CDKAL1 | T2D | A/A |
Typical |
rs7759938 |
TNF-alpha | Endometriosis | T/T |
Typical |
rs776746 |
CYP3A5 | *3 drug metabolism | C/C |
Typical |
rs7799039 |
LEP | Leptin satiety | G/A |
Notable |
rs780094 |
GCKR | Triglycerides | C/C |
Typical |
rs7903146 |
TCF7L2 | T2D | T/C |
Notable |
rs7946 |
PEMT | Phosphatidylcholine / choline | T/T |
Typical |
rs7997012 |
HTR2A | Antidepressant response | G/G |
Typical |
rs800292 |
CFH | AMD complement factor H I62V | G/G |
Typical |
rs8034191 |
CHRNA3/5 | Lung cancer / smoking | C/T |
Notable |
rs8050136 |
FTO | Obesity | A/C |
Notable |
rs8099917 |
IFNL3/IL28B | Hep C response | T/T |
Typical |
rs8176746 |
ABO | Blood type B determinant | G/G |
Typical |
rs8192678 |
PPARGC1A | Gly482Ser aerobic | C/C |
Typical |
rs855791 |
TMPRSS6 | Iron/hemoglobin | G/A |
Notable |
rs861539 |
XRCC3 | Thr241Met DNA repair | G/G |
Typical |
rs864745 |
JAZF1 | T2D | C/C |
Typical |
rs885479 |
MC1R | R163Q | G/G |
Typical |
rs889312 |
MAP3K1 | Breast cancer | A/A |
Typical |
rs9296249 |
MEIS1 | Restless legs syndrome | T/T |
Typical |
rs9331896 |
CLU | Alzheimer's | C/T |
Notable |
rs9332739 |
C2/CFB | AMD complement | G/G |
Typical |
rs9340799 |
ESR1 | Estrogen receptor alpha XbaI | A/A |
Typical |
rs9349379 |
PHACTR1 | CAD/cervical artery dissection | G/A |
Notable |
rs934945 |
PER1 | Period circadian 1 | C/C |
Typical |
rs9357271 |
BTBD9 | Restless legs / iron | T/T |
Typical |
rs9420907 |
OBFC1 | Telomere length | A/A |
Typical |
rs9594759 |
RANKL | Osteoporosis | C/C |
Typical |
rs964184 |
APOA5/ZPR1 | Triglycerides | C/C |
Typical |
rs965513 |
FOXE1 | Thyroid cancer | A/G |
Notable |
rs983392 |
MS4A6A | Alzheimer's | G/A |
Notable |
rs987237 |
TFAP2B | BMI/waist | G/G |
Typical |
rs9923231 |
VKORC1 | Warfarin sensitivity | C/T |
Notable |
rs9939609 |
FTO | Obesity risk | A/T |
Notable |