|
rs1044250
|
ANGPTL4
T266M
|
Protective missense variant that reduces LPL inhibition, lowering fasting tri...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs10455872
|
LPA
|
Intronic variant strongly associated with elevated lipoprotein(a) levels and ...
|
Atherogenic Lipoproteins
|
|
Established
|
|
rs1079128
|
SLC2A9
|
Deeply intronic SLC2A9 variant at chromosome 4:9,949,597 (GRCh38) within the ...
|
Uric Acid & Kidney Function
|
|
Emerging
|
|
rs11072566
|
NRG4
NRG4 Variant
|
Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enr...
|
Liver Fat
|
|
Emerging
|
|
rs1042571
|
POMC
|
3'UTR variant in the appetite-suppression gene POMC that disrupts miRNA bindi...
|
Appetite & Obesity
|
|
Moderate
|
|
rs10490924
|
ARMS2
A69S
|
Second strongest genetic risk factor for age-related macular degeneration, af...
|
Skin & Eyes
|
|
Established
|
|
rs11591147
|
PCSK9
R46L
|
Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...
|
Atherogenic Lipoproteins
|
|
Established
|
|
rs116843064
|
ANGPTL4
ANGPTL4 E40K
|
Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, low...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs1155563
|
GC
|
Third independent intronic tag SNP in the vitamin D binding protein gene, inf...
|
Vitamin D Metabolism
|
|
Strong
|
|
rs1165205
|
SLC17A3
SLC17A3 variant (NPT4)
|
Intronic variant in SLC17A3, encoding the renal apical urate efflux transport...
|
Uric Acid & Kidney Function
|
|
Moderate
|
|
rs11857380
|
LIPC
|
Intronic LIPC variant tagging reduced hepatic lipase expression; G allele ass...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs10423928
|
GIPR
|
Intronic GIPR variant that reduces functional GIP receptor expression via alt...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs11950646
|
SLC23A1
|
Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs12593008
|
LIPC
|
Intronic LIPC variant in intron 1 associated with low HDL risk, predominantly...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs1048943
|
CYP1A1
Ile462Val (*2C)
|
Phase I detoxification enzyme that activates polycyclic aromatic hydrocarbons...
|
Methylation & Detox
|
|
Strong
|
|
rs10830963
|
MTNR1B
Intron C>G
|
Melatonin receptor variant that extends nighttime melatonin signaling in panc...
|
Hormones & Sleep
|
|
Established
|
|
rs10852521
|
FTO
|
FTO intron 1 variant associated with BMI and body fat accumulation, with stro...
|
Fitness & Body
|
|
Moderate
|
|
rs1183201
|
SLC17A1
|
Intronic variant in SLC17A1 (NPT1), the renal apical urate efflux transporter...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs1260326
|
GCKR
P446L
|
Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...
|
Liver Fat
|
|
Strong
|
|
rs16930609
|
CYP2R1
|
Upstream regulatory variant in CYP2R1 that tags a haplotype associated with r...
|
Vitamin D Metabolism
|
|
Moderate
|
|
rs10938397
|
GNPDA2
|
GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-...
|
Appetite & Obesity
|
|
Strong
|
|
rs11942223
|
SLC2A9
|
Intronic SLC2A9 variant tagging an independent urate-transport signal; the pr...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs1993116
|
CYP2R1
CYP2R1 rs1993116
|
Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydro...
|
Vitamin D Metabolism
|
|
Moderate
|
|
rs11959928
|
DAB2
|
Intronic regulatory variant that increases DAB2 expression in kidney tubules,...
|
Cholesterol & Lipoproteins
|
|
Strong
|
|
rs1256335
|
ALPL
|
Intronic variant near ALPL associated with increased alkaline phosphatase act...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs12510549
|
SLC2A9
|
Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is as...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs12740374
|
SORT1
1p13.3 locus
|
Regulatory variant that increases sortilin expression, lowering LDL cholester...
|
Coronary Artery Disease & Atherosclerosis
|
|
Established
|
|
rs2228570
|
VDR
FokI C>T
|
Vitamin D receptor start codon variant — determines receptor protein length a...
|
Vitamin D Metabolism
|
|
Strong
|
|
rs1532085
|
LIPC
|
Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels wh...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs1799945
|
HFE
H63D
|
Second most common hereditary hemochromatosis variant, mildly increasing iron...
|
Iron & Mineral Transport
|
|
Established
|
|
rs2228603
|
NCAN
T130M (Pro92Ser)
|
Missense variant in neurocan associated with hepatic steatosis, liver inflamm...
|
Liver Fat
|
|
Moderate
|
|
rs2274327
|
CA6
Thr55Met
|
Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral aci...
|
Dental & Oral Health
|
|
Moderate
|
|
rs11644943
|
FTO
FTO Mid-Gene Intron Variant
|
An intronic FTO variant outside the well-known intron-1 obesity cluster; the ...
|
Appetite & Obesity
|
|
Emerging
|
|
rs12934922
|
BCO1
Arg267Ser
|
Reduces beta-carotene to retinol (vitamin A) conversion efficiency, contribut...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs1535
|
FADS2
|
Intronic FADS2 variant with stronger independent associations than rs174575 f...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs1800562
|
HFE
C282Y
|
Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...
|
Iron & Mineral Transport
|
|
Established
|
|
rs145946881
|
MCM6
-14010G>C
|
African lactase persistence variant — MCM6 enhancer SNP that controls LCT exp...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs1799750
|
MMP1
1G/2G
|
Promoter polymorphism affecting MMP1 expression and collagen degradation rate...
|
Skin & Eyes
|
|
Strong
|
|
rs2282679
|
GC
|
Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...
|
Vitamin D Metabolism
|
|
Established
|
|
rs2642438
|
MTARC1
p.Ala165Thr (A165T)
|
Protective missense variant that reduces MTARC1 protein stability, cutting he...
|
Liver Fat
|
|
Established
|
|
rs11605924
|
CRY2
Intron Variant
|
Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol...
|
Hormones & Sleep
|
|
Strong
|
|
rs12696304
|
TERC
|
Regulatory variant near the telomerase RNA gene associated with shorter telom...
|
Longevity & Aging
|
|
Established
|
|
rs16890979
|
SLC2A9
|
Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile ...
|
Uric Acid & Kidney Function
|
|
Moderate
|
|
rs17321515
|
TRIB1
|
Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs13107325
|
SLC39A8
A391T
|
Zinc and manganese transporter variant that reduces metal ion absorption, aff...
|
IBD & Mucosal Immunity
|
|
Strong
|
|
rs1501299
|
ADIPOQ
+276G>T
|
Intronic variant in the adiponectin gene that influences circulating adiponec...
|
Coronary Artery Disease & Atherosclerosis
|
|
Moderate
|
|
rs174535
|
MYRF
|
Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associ...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs2018643
|
SLC2A9
SLC2A9 rs2018643
|
Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4;...
|
Uric Acid & Kidney Function
|
|
Moderate
|
|
rs4240624
|
PPP1R3B
Near-gene variant
|
Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat...
|
Liver Fat
|
|
Strong
|
|
rs10741657
|
CYP2R1
promoter variant
|
Vitamin D activation — converts D3 to 25(OH)D in the liver
|
Methylation & Detox
|
|
Strong
|
|
rs1175540
|
PPARG
PPARG rs1175540
|
Intronic PPARG variant associated with differential weight loss response to c...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs121918389
|
APOB
Q1477X (apoB-32)
|
Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) t...
|
Cholesterol & Lipoproteins
|
|
Strong
|
|
rs174537
|
FADS1
|
Regulatory variant in the FADS1 locus that controls delta-5 desaturase expres...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs17782313
|
MC4R
Near-gene C>T
|
Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...
|
Appetite & Obesity
|
|
Strong
|
|
rs2078267
|
SLC22A11
|
Intronic variant in the OAT4 renal urate transporter that modulates uric acid...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs4588
|
GC
Thr436Lys
|
Alters vitamin D binding protein affinity, affecting total and bioavailable 2...
|
Vitamin D Metabolism
|
|
Strong
|
|
rs4841132
|
PPP1R3B
|
Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu...
|
Liver Fat
|
|
Strong
|
|
rs121918390
|
APOB
APOB R2522X
|
Nonsense mutation truncating apolipoprotein B at residue 2522, causing famili...
|
Cholesterol & Lipoproteins
|
|
Strong
|
|
rs1333049
|
CDKN2B-AS1
9p21 locus
|
Strongest GWAS signal for coronary artery disease; risk C allele accelerates ...
|
Longevity & Aging
|
|
Established
|
|
rs174541
|
FADS1
FADS1 C>G (delta-5 desaturase depth)
|
Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs3733585
|
SLC2A9
|
Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate tran...
|
Uric Acid & Kidney Function
|
|
Emerging
|
|
rs1175544
|
PPARG
PPARG rs1175544
|
Intronic PPARG variant that accounts for ~7% of individual variation in body ...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs121918391
|
APOB
APOB Tyr1200Ter
|
Rare APOB stop-gain variant that truncates apolipoprotein B to ~27% of its fu...
|
Cholesterol & Lipoproteins
|
|
Strong
|
|
rs174546
|
FADS1
|
3'UTR regulatory variant in FADS1 that disrupts a miR-149-5p binding site, re...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs3733590
|
SLC2A9
|
Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele...
|
Uric Acid & Kidney Function
|
|
Emerging
|
|
rs6013897
|
CYP24A1
|
Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — ...
|
Vitamin D Metabolism
|
|
Strong
|
|
rs12447924
|
CETP
|
Upstream promoter variant in CETP that tags the HDL-raising haplotype block —...
|
Cholesterol & Lipoproteins
|
|
Moderate
|
|
rs174547
|
FADS1
|
Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA fr...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs3733591
|
SLC2A9
Arg265His
|
Missense variant in the major renal urate transporter; the Arg265 (C) allele ...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs5128
|
APOC3
3238C>G (SstI)
|
Regulates triglyceride metabolism through effects on APOC3 expression in the ...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs58542926
|
TM6SF2
E167K
|
Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...
|
Liver Fat
|
|
Strong
|
|
rs7041
|
GC
Asp432Glu
|
Vitamin D binding protein variant that determines VDBP isoform, affecting vit...
|
Vitamin D Metabolism
|
|
Strong
|
|
rs17219084
|
FTO
|
FTO intron variant in the extended obesity-associated region, with explorator...
|
Fitness & Body
|
|
Emerging
|
|
rs174548
|
FADS1
|
Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2413450
|
TMPRSS6
TMPRSS6 iron regulation variant
|
Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin level...
|
Iron & Mineral Transport
|
|
Strong
|
|
rs641738
|
MBOAT7
|
Regulatory variant that reduces MBOAT7 expression in the liver, impairing pho...
|
Liver Fat
|
|
Strong
|
|
rs174561
|
FADS1
|
Intronic variant in the FADS1 gene cluster that tags a haplotype block contro...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2241423
|
MAP2K5
|
MAPK signaling variant in MAP2K5 associated with BMI through altered adipogen...
|
Appetite & Obesity
|
|
Moderate
|
|
rs4473653
|
SLC2A9
|
Intronic SLC2A9 variant in a third independent haplotype block within the GLU...
|
Uric Acid & Kidney Function
|
|
Moderate
|
|
rs12243326
|
TCF7L2
TCF7L2 Incretin Response Depth Variant
|
Intronic TCF7L2 depth variant replicated across multiple populations as a sec...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs12636454
|
PPARG
PPARG rs12636454
|
Intronic PPARG variant associated with modest reduction in type 2 diabetes ri...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs174568
|
FADS2
FADS2 C>T (delta-6 desaturase)
|
Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-li...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs2815752
|
NEGR1
|
Top obesity GWAS variant near NEGR1 — affects hypothalamic appetite regulatio...
|
Appetite & Obesity
|
|
Strong
|
|
rs4820268
|
TMPRSS6
TMPRSS6 D512E
|
TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu...
|
Iron & Mineral Transport
|
|
Strong
|
|
rs12255372
|
TCF7L2
|
Second TCF7L2 diabetes variant - compounds risk with rs7903146
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs174572
|
FADS2
|
Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs1800206
|
PPARA
Leu162Val (L162V)
|
Missense variant in PPARA that reduces receptor transcriptional activity, ele...
|
Fitness & Body
|
|
Moderate
|
|
rs1800872
|
IL10
-592 C>A
|
Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...
|
Vascular Inflammation & Remodeling
|
|
Strong
|
|
rs2241766
|
ADIPOQ
T45G
|
Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability...
|
Coronary Artery Disease & Atherosclerosis
|
|
Moderate
|
|
rs174575
|
FADS2
|
Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs475688
|
SLC22A12
|
Intronic regulatory variant in the URAT1 renal urate transporter gene; the T ...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs6511720
|
LDLR
Intron 1
|
Common regulatory variant in the LDL receptor gene affecting LDLR expression,...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs738409
|
PNPLA3
I148M
|
Strongest genetic risk factor for non-alcoholic fatty liver disease, progress...
|
Liver Fat
|
|
Established
|
|
rs13266634
|
SLC30A8
Arg325Trp (C>T)
|
Zinc transporter 8 variant affecting zinc loading into insulin granules, infl...
|
Blood Sugar & Diabetes
|
|
Established
|
|
rs174616
|
FADS2
FADS2 Haplotype Block Variant
|
Intronic FADS2 variant tagging the FADS1/FADS2 haplotype block; A allele carr...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2241880
|
ATG16L1
T300A
|
Autophagy gene variant affecting bacterial clearance in gut epithelial cells,...
|
IBD & Mucosal Immunity
|
|
Established
|
|
rs33972313
|
SLC23A1
Val264Met
|
Primary intestinal and renal vitamin C transporter — variant reduces ascorbat...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs505802
|
SLC22A12
|
Upstream regulatory variant in the URAT1 urate reabsorption transporter gene;...
|
Uric Acid & Kidney Function
|
|
Established
|
|
rs662799
|
APOA5
-1131T>C
|
Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase ...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs780094
|
GCKR
|
Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260...
|
Liver Fat
|
|
Strong
|
|
rs3827103
|
MC3R
|
Common MC3R missense variant that reduces receptor expression and shifts nutr...
|
Appetite & Obesity
|
|
Moderate
|
|
rs855791
|
TMPRSS6
Ala736Val
|
Master regulator of iron absorption via hepcidin control — the strongest comm...
|
Iron & Mineral Transport
|
|
Established
|
|
rs1801260
|
CLOCK
3111T>C (3'UTR)
|
Core circadian clock transcription factor variant affecting mRNA stability, a...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3760775
|
FUT6
|
Near-gene regulatory variant near FUT6 that reduces fucosyltransferase expres...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs6837293
|
PRKG2
|
Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele wa...
|
Uric Acid & Kidney Function
|
|
Emerging
|
|
rs693
|
APOB
XbaI (C/T)
|
Silent variant affecting LDL particle number and lipid metabolism; A allele c...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs1402837
|
G6PC2
G6PC2 Fasting Glucose Variant
|
Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell gluc...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs1544410
|
VDR
BsmI
|
Vitamin D receptor — affects how well vitamin D activates cellular processes
|
Methylation & Detox
|
|
Moderate
|
|
rs17300539
|
ADIPOQ
-11391G>A
|
Promoter variant affecting adiponectin secretion and metabolic syndrome risk
|
Fat Storage & Energy
|
|
Strong
|
|
rs1799883
|
FABP2
Ala54Thr
|
Intestinal fat absorption - affects how efficiently you absorb dietary fat
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs2229765
|
IGF1R
c.3179G>A (E1013E)
|
Synonymous IGF1R variant associated with lower circulating IGF-1 levels and e...
|
Longevity & Aging
|
|
Moderate
|
|
rs3832024
|
FMO3
FMO3 c.591_592del
|
A 2-bp frameshift deletion in FMO3 that creates a premature stop codon at pos...
|
Vitamins & Nutrient Absorption
|
|
Established
|
|
rs6849729
|
SLC2A9
|
Intronic SLC2A9 variant 70 bp from rs6815001 tagging the same renal urate-cle...
|
Uric Acid & Kidney Function
|
|
Emerging
|
|
rs708272
|
CETP
TaqIB
|
Influences HDL cholesterol levels and particle size through effects on choles...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs2000813
|
LIPG
|
Missense variant in endothelial lipase that tags a regulatory haplotype assoc...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs6852441
|
SLC2A9
|
Intronic SLC2A9 variant tagging a urate-transport regulatory haplotype; the p...
|
Uric Acid & Kidney Function
|
|
Moderate
|
|
rs1800592
|
UCP1
A-3826G
|
Promoter variant reducing UCP1 expression in brown adipose tissue, impairing ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs2072114
|
FADS2
FADS2 Intron 1 Variant
|
Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 ...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs28942083
|
LDLR
Cys667Tyr
|
Pathogenic LDLR missense variant abolishing LDL receptor surface expression, ...
|
Cholesterol & Lipoproteins
|
|
Established
|
|
rs1800849
|
UCP3
-55C>T
|
Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs1801282
|
PPARG
Pro12Ala
|
Insulin sensitivity - affects how well your cells respond to insulin
|
Fat Storage & Energy
|
|
Established
|
|
rs571312
|
MC4R
MC4R Regulatory Variant (Appetite Signaling)
|
Regulatory variant upstream of MC4R associated with increased caloric intake,...
|
Appetite & Obesity
|
|
Strong
|
|
rs7435196
|
SLC2A9
|
Intronic SLC2A9 variant located within the GLUT9 renal urate transporter gene...
|
Uric Acid & Kidney Function
|
|
Emerging
|
|
rs2197089
|
LPL
LPL Regulatory Variant
|
Downstream regulatory variant affecting LPL expression and triglyceride clear...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs370793608
|
ALDOB
ALDOB Y204X
|
Nonsense variant in the aldolase B gene creating a premature stop codon at po...
|
Metabolic Enzymes & Rare Disorders
|
|
Established
|
|
rs7660895
|
SLC2A9
|
Intronic variant in the major renal urate transporter GLUT9; the G allele red...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs7679916
|
SLC2A9
|
Regulatory upstream variant in the SLC2A9 promoter region; the T allele is as...
|
Uric Acid & Kidney Function
|
|
Emerging
|
|
rs41380347
|
MCM6
G-13915T
|
East African lactase persistence allele — MCM6 enhancer SNP that independentl...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs4977574
|
CDKN2B-AS1
9p21.3
|
Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary arter...
|
Coronary Artery Disease & Atherosclerosis
|
|
Established
|
|
rs2524299
|
FADS2
|
Intronic regulatory variant in FADS2 (Block 2 haplotype) that reduces basal F...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs264
|
LPL
LPL Intron 6 Variant
|
Intronic LPL variant associated with altered triglyceride clearance and HDL l...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs429358
|
APOE
E4 determinant
|
Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high sat...
|
Cholesterol & Lipoproteins
|
|
Established
|
|
rs4654748
|
NBPF3
|
Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common geneti...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs2304795
|
PLIN1
|
Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated wit...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs2605100
|
LYPLAL1
|
Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat...
|
Fat Storage & Energy
|
|
Strong
|
|
rs2727271
|
FADS2
|
Intronic variant in FADS2 (delta-6 desaturase) associated with reduced enzyme...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs662
|
PON1
Q192R
|
Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and pr...
|
Vascular Inflammation & Remodeling
|
|
Moderate
|
|
rs2287161
|
CRY1
3' Downstream G>C
|
Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t...
|
Hormones & Sleep
|
|
Strong
|
|
rs2854116
|
APOC3
T-455C
|
APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs520354
|
APOB
APOB IVS6+360
|
Intronic APOB variant where the A allele (plus strand) is associated with app...
|
Cholesterol & Lipoproteins
|
|
Moderate
|
|
rs3801387
|
WNT16
|
Intronic variant affecting cortical bone thickness, bone mineral density, and...
|
Fitness & Body
|
|
Established
|
|
rs5888
|
SCARB1
|
Synonymous variant that reduces SR-BI receptor expression and impairs HDL cho...
|
Cholesterol & Lipoproteins
|
|
Moderate
|
|
rs6053005
|
SLC23A2
|
Intronic variant in the SVCT2 tissue vitamin C transporter — associated with ...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs7566605
|
INSIG2
|
Upstream regulatory variant near INSIG2 that influences lipogenesis control a...
|
Appetite & Obesity
|
|
Moderate
|
|
rs2954021
|
TRIB1
|
Near-gene variant influencing hepatic lipid metabolism; G allele raises trigl...
|
Triglycerides & Fatty Acids
|
|
Established
|
|
rs6133175
|
SLC23A2
|
Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes c...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs2959272
|
PPARG
PPARG intronic calorie-restriction trial variant
|
Intronic PPARG variant significantly associated with individual variation in ...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs3135506
|
APOA5
S19W
|
Triglyceride metabolism - affects fasting triglyceride levels and cardiovascu...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs61735836
|
FTCD
|
Missense variant in the FTCD enzyme that impairs one-carbon unit transfer fro...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs7799039
|
LEP
G-2548A
|
Promoter variant that increases leptin gene expression in adipose tissue, ele...
|
Appetite & Obesity
|
|
Moderate
|
|
rs3211867
|
CD36
|
Intronic CD36 variant that reduces CD36 expression, impairing postprandial fa...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs6420424
|
BCO1
|
Upstream regulatory variant near BCO1 that reduces beta-carotene to vitamin A...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs1979277
|
SHMT1
C1420T
|
Alters one-carbon metabolism and folate distribution; influences cancer risk,...
|
Methylation & Detox
|
|
Moderate
|
|
rs6564851
|
BCO1
|
Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs3212018
|
CD36
|
A 16-bp deletion in the 3' untranslated region of CD36 that may reduce mRNA s...
|
Triglycerides & Fatty Acids
|
|
Emerging
|
|
rs6596471
|
SLC23A1
SLC23A1 variant
|
Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs987237
|
TFAP2B
|
Adipocyte transcription factor variant influencing central fat distribution a...
|
Appetite & Obesity
|
|
Moderate
|
|
rs6596473
|
SLC23A1
SLC23A1 variant
|
Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...
|
Vitamins & Nutrient Absorption
|
|
Emerging
|
|
rs6902123
|
PPARD
|
Intronic PPARD variant that independently impairs hepatic fat mobilization du...
|
Fitness & Body
|
|
Moderate
|
|
rs9939609
|
FTO
Intron 1 T>A
|
The most strongly replicated obesity-associated variant, affecting body weigh...
|
Appetite & Obesity
|
|
Established
|
|
rs699
|
AGT
M235T
|
Angiotensinogen level variant affecting blood pressure, sodium sensitivity, a...
|
Fitness & Body
|
|
Strong
|
|
rs6994076
|
TTPA
-980T>A
|
Regulates expression of the alpha-tocopherol transfer protein, the key determ...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs290475
|
TCF7L2
TCF7L2 Beta Cell Function Depth Variant
|
Intronic TCF7L2 variant tagging a distinct haplotype with emerging evidence f...
|
Blood Sugar & Diabetes
|
|
Emerging
|
|
rs35333999
|
PER2
V903I
|
Missense variant in core circadian clock gene PER2 that lengthens intrinsic c...
|
Hormones & Sleep
|
|
Strong
|
|
rs7061710
|
FMO3
|
Intronic FMO3 variant associated with reduced hepatic oxidation of garlic-der...
|
Vitamins & Nutrient Absorption
|
|
Moderate
|
|
rs2943641
|
IRS1
Near-gene C>T
|
Regulates insulin signaling efficiency and cellular glucose uptake
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs7501331
|
BCO1
Ala379Val
|
Reduces beta-carotene conversion to vitamin A (retinol) by ~32% per T allele,...
|
Vitamins & Nutrient Absorption
|
|
Strong
|
|
rs3834458
|
FADS2
|
A 3-bp deletion in intron 3 of FADS2 that reduces delta-6 desaturase activity...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2236225
|
MTHFD1
G1958A
|
Folate processing enzyme — reduced stability increases choline need
|
Methylation & Detox
|
|
Strong
|
|
rs4148102
|
ABCG1
ABCG1 intronic PUFA-interaction variant
|
Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifi...
|
Triglycerides & Fatty Acids
|
|
Emerging
|
|
rs7834555
|
BCO1
|
Intergenic GWAS tag SNP near the BCO1 pathway, associated with circulating be...
|
Vitamins & Nutrient Absorption
|
|
Emerging
|
|
rs4994
|
ADRB3
Trp64Arg
|
Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipo...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs660339
|
UCP2
Ala55Val
|
Missense variant reducing mitochondrial uncoupling efficiency in white adipos...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs5082
|
APOA2
-265T>C
|
Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consumi...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs6809631
|
PPARG
|
Intronic PPARG promoter tagSNP associated with modest reduction in type 2 dia...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs366631
|
GSTM1
Tag SNP for gene deletion
|
Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomi...
|
Methylation & Detox
|
|
Strong
|
|
rs5085
|
APOA2
APOA2 rs5085
|
Intronic APOA2 tag SNP that captures the saturated fat-weight gain interactio...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs3733890
|
BHMT
R239Q
|
Missense variant in betaine-homocysteine methyltransferase that reduces enzym...
|
Methylation & Detox
|
|
Moderate
|
|
rs4812829
|
HNF4A
HNF4A Intronic T2D Risk Variant
|
Common intronic variant in HNF4A associated with modestly elevated type 2 dia...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs5956
|
CD36
|
Synonymous coding variant in CD36 fatty acid translocase; the minor A allele ...
|
Triglycerides & Fatty Acids
|
|
Emerging
|
|
rs6507931
|
LIPG
|
Intronic LIPG variant that modulates HDL cholesterol levels, with strongest e...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs964184
|
ZNF259
ZNF259/BUD13 Triglyceride Variant
|
Common regulatory variant at the APOA5-ZNF259 locus; G allele reduces ApoAV p...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs9817428
|
PPARG
PPARG promoter tagSNP
|
Intronic PPARG tagSNP with cross-ethnic replication for type 2 diabetes risk ...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs99780
|
FADS2
|
Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase ac...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs4988235
|
LCT
-13910C>T
|
Lactase persistence - ability to digest lactose (milk sugar) in adulthood
|
Methylation & Detox
|
|
Established
|
|
rs567754
|
BHMT
BHMT-02
|
Intronic variant in betaine-homocysteine methyltransferase gene associated wi...
|
Methylation & Detox
|
|
Moderate
|
|
rs7946
|
PEMT
Val175Met
|
Phosphatidylcholine production — affects dietary choline requirements
|
Methylation & Detox
|
|
Strong
|
|
rs780095
|
GCKR
GCKR Glucose-Lipid Regulation Variant
|
Intronic GCKR enhancer variant on the CGG regulatory haplotype; the G allele ...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs780096
|
GCKR
GCKR Metabolic Balance Variant
|
Intronic GCKR enhancer variant that modulates FOXA2-driven GCKR expression in...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs7903146
|
TCF7L2
|
Main type 2 diabetes risk variant - strongly modulated by dietary fat
|
Blood Sugar & Diabetes
|
|
Established
|
|
rs671
|
ALDH2
*2
|
Alcohol metabolism - flush reaction and cancer risk
|
Pharmacogenomics
|
|
Established
|
|
rs762551
|
CYP1A2
*1F
|
CYP1A2 *1F intronic inducibility variant — defines fast vs slow caffeine meta...
|
Pharmacogenomics
|
|
Strong
|
|
rs8065080
|
TRPV1
Ile585Val
|
Capsaicin receptor variant affecting heat and pain sensitivity
|
Neurology & Cognition
|
|
Strong
|