|
rs1333049
|
CDKN2B-AS1
9p21
|
Strongest genetic risk factor for coronary artery disease and myocardial infa...
|
Heart & Inflammation
|
|
Established
|
|
rs1801133
|
MTHFR
C677T
|
Key enzyme for converting folate to its active methylfolate form
|
Methylation & Detox
|
|
Established
|
|
rs1815739
|
ACTN3
R577X
|
Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, ...
|
Fitness & Body
|
|
Strong
|
|
rs10455872
|
LPA
|
Intronic variant strongly associated with elevated lipoprotein(a) levels and ...
|
Heart & Inflammation
|
|
Established
|
|
rs11206244
|
DIO1
C785T
|
Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...
|
Hormones & Sleep
|
|
Strong
|
|
rs8192678
|
PPARGC1A
Gly482Ser
|
Master regulator of mitochondrial biogenesis affecting aerobic capacity, endu...
|
Fitness & Body
|
|
Strong
|
|
rs11591147
|
PCSK9
R46L
|
Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...
|
Heart & Inflammation
|
|
Established
|
|
rs1799941
|
SHBG
|
Promoter region variant affecting sex hormone-binding globulin levels, with t...
|
Hormones & Sleep
|
|
Strong
|
|
rs4986790
|
TLR4
Asp299Gly
|
Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...
|
Immune & Gut
|
|
Strong
|
|
rs1042713
|
ADRB2
Arg16Gly
|
Beta-2 adrenergic receptor variant affecting receptor downregulation, exercis...
|
Fitness & Body
|
|
Strong
|
|
rs1611115
|
DBH
-1021C>T
|
Strongest known genetic determinant of dopamine beta-hydroxylase activity, co...
|
Brain & Mental Health
|
|
Strong
|
|
rs1800896
|
IL10
-1082 A>G
|
Promoter variant affecting IL-10 production — the master anti-inflammatory cy...
|
Immune & Gut
|
|
Strong
|
|
rs429358
|
APOE
E4 determinant
|
Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high sat...
|
Nutrition & Metabolism
|
|
Established
|
|
rs708272
|
CETP
TaqIB
|
Influences HDL cholesterol levels and particle size through effects on choles...
|
Heart & Inflammation
|
|
Strong
|
|
rs1799750
|
MMP1
1G/2G
|
Promoter polymorphism affecting MMP1 expression and collagen degradation rate...
|
Skin & Eyes
|
|
Strong
|
|
rs1800629
|
TNF
-308 G>A
|
Promoter variant increasing TNF-alpha production 2-3 fold, associated with au...
|
Immune & Gut
|
|
Strong
|
|
rs693
|
APOB
XbaI (C/T)
|
Silent variant affecting LDL particle number and lipid metabolism; T allele c...
|
Heart & Inflammation
|
|
Strong
|
|
rs699
|
AGT
M235T
|
Angiotensinogen level variant affecting blood pressure, sodium sensitivity, a...
|
Fitness & Body
|
|
Strong
|
|
rs7412
|
APOE
E2 determinant
|
APOE E2 variant - generally protective for cardiovascular health
|
Nutrition & Metabolism
|
|
Established
|
|
rs174547
|
FADS1
|
Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA fr...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs5186
|
AGTR1
A1166C
|
3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...
|
Heart & Inflammation
|
|
Moderate
|
|
rs1061170
|
CFH
Y402H
|
Strongly increases risk of age-related macular degeneration through impaired ...
|
Skin & Eyes
|
|
Established
|
|
rs2234693
|
ESR1
PvuII
|
Estrogen receptor alpha intron variant affecting receptor expression and estr...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3135506
|
APOA5
S19W
|
Triglyceride metabolism - affects fasting triglyceride levels and cardiovascu...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs4253778
|
PPARA
intron 7 G/C
|
Regulates fatty acid oxidation and muscle fiber composition, influencing endu...
|
Fitness & Body
|
|
Moderate
|
|
rs662
|
PON1
Q192R
|
Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and pr...
|
Heart & Inflammation
|
|
Moderate
|
|
rs762551
|
CYP1A2
*1F
|
Caffeine metabolism - affects how quickly you process caffeine
|
Pharmacogenomics
|
|
Strong
|
|
rs1205
|
CRP
+1846C>T
|
3' UTR variant that modulates baseline C-reactive protein levels and inflamma...
|
Heart & Inflammation
|
|
Strong
|
|
rs1800795
|
IL6
-174G/C
|
Promoter variant controlling interleukin-6 expression — affects inflammation,...
|
Fitness & Body
|
|
Strong
|
|
rs4149056
|
SLCO1B1
*5
|
Statin transport - affects muscle side effect risk with statins
|
Pharmacogenomics
|
|
Established
|
|
rs16944
|
IL1B
-511C>T
|
Promoter variant affecting IL-1 beta production, influencing inflammatory res...
|
Heart & Inflammation
|
|
Strong
|
|
rs2802292
|
FOXO3
|
Longevity-associated intronic enhancer variant with 1.9-fold increased probab...
|
Heart & Inflammation
|
|
Established
|
|
rs4236601
|
CAV1
|
Intergenic variant near caveolin genes affecting primary open-angle glaucoma ...
|
Skin & Eyes
|
|
Strong
|
|
rs6025
|
F5
Leiden
|
Factor V Leiden - blood clotting disorder affecting thrombosis risk
|
Pharmacogenomics
|
|
Established
|
|
rs234706
|
CBS
C699T
|
Common synonymous variant in the CBS gene associated with reduced cardiovascu...
|
Methylation & Detox
|
|
Moderate
|
|
rs33912345
|
SIX6
Asn141His
|
Affects optic nerve development and retinal ganglion cell survival, strongly ...
|
Skin & Eyes
|
|
Strong
|
|
rs4588
|
GC
Thr436Lys
|
Alters vitamin D binding protein affinity, affecting total and bioavailable 2...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs9536314
|
KLOTHO
F352V (KL-VS)
|
Longevity-associated variant exhibiting overdominance where heterozygotes sho...
|
Heart & Inflammation
|
|
Strong
|
|
rs1052373
|
MYBPC3
|
Cardiac myosin-binding protein variant strongly associated with endurance ath...
|
Fitness & Body
|
|
Strong
|
|
rs1801181
|
CBS
A360A
|
A synonymous variant in CBS affecting homocysteine metabolism and associated ...
|
Methylation & Detox
|
|
Moderate
|
|
rs6511720
|
LDLR
Intron 1
|
Common regulatory variant in the LDL receptor gene affecting LDLR expression,...
|
Heart & Inflammation
|
|
Strong
|
|
rs12740374
|
SORT1
1p13.3 locus
|
Regulatory variant that increases sortilin expression, lowering LDL cholester...
|
Heart & Inflammation
|
|
Established
|
|
rs12785878
|
DHCR7
Near gene T>G
|
Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs13107325
|
SLC39A8
A391T
|
Zinc and manganese transporter variant that reduces metal ion absorption, aff...
|
Immune & Gut
|
|
Strong
|
|
rs2010963
|
VEGFA
G-634C (+405G>C)
|
Promoter variant affecting VEGF-A expression and angiogenesis, influencing mu...
|
Fitness & Body
|
|
Strong
|
|
rs567754
|
BHMT
BHMT-02
|
Intronic variant in betaine-homocysteine methyltransferase gene associated wi...
|
Methylation & Detox
|
|
Moderate
|
|
rs1979277
|
SHMT1
C1420T
|
Alters one-carbon metabolism and folate distribution; influences cancer risk,...
|
Methylation & Detox
|
|
Moderate
|
|
rs2228570
|
VDR
FokI C>T
|
Vitamin D receptor start codon variant — determines receptor protein length a...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs41423247
|
NR3C1
BclI
|
Intronic glucocorticoid receptor variant affecting cortisol sensitivity and s...
|
Brain & Mental Health
|
|
Strong
|
|
rs5128
|
APOC3
3238C>G (SstI)
|
Regulates triglyceride metabolism through effects on APOC3 expression in the ...
|
Heart & Inflammation
|
|
Strong
|
|
rs1800947
|
CRP
+1059G>C
|
Synonymous exon 2 variant that influences baseline C-reactive protein express...
|
Heart & Inflammation
|
|
Strong
|
|
rs2736100
|
TERT
|
Common intron 2 variant in the telomerase gene that influences telomere lengt...
|
Immune & Gut
|
|
Strong
|
|
rs819147
|
AHCY
|
Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf...
|
Methylation & Detox
|
|
Moderate
|
|
rs12696304
|
TERC
|
Regulatory variant near the telomerase RNA gene associated with shorter telom...
|
Immune & Gut
|
|
Established
|
|
rs4073
|
IL8
-251A>T
|
Promoter variant affecting interleukin-8 transcription and inflammatory burden
|
Heart & Inflammation
|
|
Strong
|
|
rs11136000
|
CLU
|
Intronic variant in clusterin gene affecting Alzheimer's disease risk through...
|
Brain & Mental Health
|
|
Established
|
|
rs1800872
|
IL10
-592 C>A
|
Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...
|
Heart & Inflammation
|
|
Strong
|
|
rs2287161
|
CRY1
3' Downstream G>C
|
Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t...
|
Hormones & Sleep
|
|
Strong
|
|
rs6994076
|
TTPA
-980T>A
|
Regulates expression of the alpha-tocopherol transfer protein, the key determ...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs75932628
|
TREM2
R47H
|
Rare missense variant in microglial receptor TREM2 that significantly increas...
|
Brain & Mental Health
|
|
Established
|
|
rs3851179
|
PICALM
|
Variant in the PICALM gene affecting amyloid-beta clearance across the blood-...
|
Brain & Mental Health
|
|
Established
|
|
rs855791
|
TMPRSS6
Ala736Val
|
Master regulator of iron absorption via hepcidin control — the strongest comm...
|
Nutrition & Metabolism
|
|
Established
|
|
rs1800562
|
HFE
C282Y
|
Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...
|
Nutrition & Metabolism
|
|
Established
|
|
rs2231142
|
ABCG2
Q141K
|
Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...
|
Pharmacogenomics
|
|
Established
|
|
rs3736228
|
LRP5
A1330V
|
Wnt signaling co-receptor variant affecting bone mineral density and fracture...
|
Fitness & Body
|
|
Strong
|
|
rs1799945
|
HFE
H63D
|
Second most common hereditary hemochromatosis variant, mildly increasing iron...
|
Nutrition & Metabolism
|
|
Established
|
|
rs1799983
|
NOS3
Glu298Asp
|
Nitric oxide production - reduced activity increases cardiovascular risk and ...
|
Methylation & Detox
|
|
Established
|
|
rs2108622
|
CYP4F2
V433M (*3)
|
Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anti...
|
Pharmacogenomics
|
|
Established
|
|
rs3801387
|
WNT16
|
Intronic variant affecting cortical bone thickness, bone mineral density, and...
|
Fitness & Body
|
|
Established
|
|
rs13266634
|
SLC30A8
Arg325Trp (C>T)
|
Zinc transporter 8 variant affecting zinc loading into insulin granules, infl...
|
Nutrition & Metabolism
|
|
Established
|
|
rs2070744
|
NOS3
T-786C promoter
|
NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide ...
|
Methylation & Detox
|
|
Strong
|
|
rs1045642
|
ABCB1
C3435T
|
Synonymous variant in P-glycoprotein affecting drug efflux pump expression an...
|
Pharmacogenomics
|
|
Moderate
|
|
rs3025058
|
MMP3
5A/6A
|
Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...
|
Fitness & Body
|
|
Strong
|
|
rs8065080
|
TRPV1
Ile585Val
|
Capsaicin receptor variant affecting heat and pain sensitivity
|
Brain & Mental Health
|
|
Strong
|
|
rs9939609
|
FTO
Intron 1 T>A
|
The most strongly replicated obesity-associated variant, affecting body weigh...
|
Nutrition & Metabolism
|
|
Established
|
|
rs17782313
|
MC4R
Near-gene C>T
|
Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs4148323
|
UGT1A1
*6 Gly71Arg
|
Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...
|
Pharmacogenomics
|
|
Established
|
|
rs8007267
|
GCH1
|
Promoter variant affecting GTP cyclohydrolase 1 expression and pain sensitivi...
|
Brain & Mental Health
|
|
Strong
|
|
rs9594759
|
TNFSF11
|
Regulatory variant in the RANKL gene affecting bone mineral density and osteo...
|
Fitness & Body
|
|
Strong
|
|
rs58542926
|
TM6SF2
E167K
|
Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs3751143
|
P2RX7
Glu496Ala
|
Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...
|
Brain & Mental Health
|
|
Strong
|
|
rs4880
|
SOD2
Val16Ala
|
Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxif...
|
Methylation & Detox
|
|
Strong
|
|
rs5219
|
KCNJ11
E23K
|
Controls the pancreatic beta-cell potassium channel that regulates insulin se...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1050450
|
GPX1
Pro198Leu
|
Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the...
|
Methylation & Detox
|
|
Strong
|
|
rs2943641
|
IRS1
Near-gene C>T
|
Regulates insulin signaling efficiency and cellular glucose uptake
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1006737
|
CACNA1C
|
L-type calcium channel gene variant affecting mood regulation, emotional proc...
|
Brain & Mental Health
|
|
Strong
|
|
rs28929474
|
SERPINA1
Z allele (E342K)
|
Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...
|
Nutrition & Metabolism
|
|
Established
|
|
rs1138272
|
GSTP1
Ala114Val
|
Second functional variant in glutathione S-transferase Pi 1, reducing enzyme ...
|
Methylation & Detox
|
|
Moderate
|
|
rs7895833
|
SIRT1
A>G
|
Intronic variant in SIRT1 affecting NAD-dependent deacetylase expression and ...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs17300539
|
ADIPOQ
-11391G>A
|
Promoter variant affecting adiponectin secretion and metabolic syndrome risk
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1800566
|
NQO1
Pro187Ser (C609T)
|
Phase II detoxification enzyme that reduces quinones and recycles CoQ10 to it...
|
Methylation & Detox
|
|
Strong
|
|
rs1048943
|
CYP1A1
Ile462Val (*2C)
|
Phase I detoxification enzyme that activates polycyclic aromatic hydrocarbons...
|
Methylation & Detox
|
|
Strong
|
|
rs1001179
|
CAT
-262C>T
|
Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...
|
Methylation & Detox
|
|
Strong
|