|
rs2274327
|
CA6
Thr55Met
|
Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral aci...
|
Dental & Oral Health
|
|
Moderate
|
|
rs7903146
|
TCF7L2
|
Main type 2 diabetes risk variant - strongly modulated by dietary fat
|
Nutrition & Metabolism
|
|
Established
|
|
rs10455872
|
LPA
|
Intronic variant strongly associated with elevated lipoprotein(a) levels and ...
|
Heart & Inflammation
|
|
Established
|
|
rs12255372
|
TCF7L2
|
Second TCF7L2 diabetes variant - compounds risk with rs7903146
|
Nutrition & Metabolism
|
|
Strong
|
|
rs11591147
|
PCSK9
R46L
|
Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...
|
Heart & Inflammation
|
|
Established
|
|
rs1801282
|
PPARG
Pro12Ala
|
Insulin sensitivity - affects how well your cells respond to insulin
|
Nutrition & Metabolism
|
|
Established
|
|
rs12696304
|
TERC
|
Regulatory variant near the telomerase RNA gene associated with shorter telom...
|
Longevity & Aging
|
|
Established
|
|
rs2236225
|
MTHFD1
G1958A
|
Folate processing enzyme — reduced stability increases choline need
|
Methylation & Detox
|
|
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
|
|
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
|
|
rs174547
|
FADS1
|
Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA fr...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1544410
|
VDR
BsmI
|
Vitamin D receptor — affects how well vitamin D activates cellular processes
|
Methylation & Detox
|
|
Moderate
|
|
rs3135506
|
APOA5
S19W
|
Triglyceride metabolism - affects fasting triglyceride levels and cardiovascu...
|
Nutrition & Metabolism
|
|
Strong
|
|
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
|
|
rs10490924
|
ARMS2
A69S
|
Second strongest genetic risk factor for age-related macular degeneration, af...
|
Skin & Eyes
|
|
Established
|
|
rs10741657
|
CYP2R1
promoter variant
|
Vitamin D activation — converts D3 to 25(OH)D in the liver
|
Methylation & Detox
|
|
Strong
|
|
rs1799883
|
FABP2
Ala54Thr
|
Intestinal fat absorption - affects how efficiently you absorb dietary fat
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs1801260
|
CLOCK
3111T>C (3'UTR)
|
Core circadian clock transcription factor variant affecting mRNA stability, a...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2229765
|
IGF1R
c.3179G>A (E1013E)
|
Synonymous IGF1R variant associated with lower circulating IGF-1 levels and e...
|
Longevity & Aging
|
|
Moderate
|
|
rs7501331
|
BCO1
Ala379Val
|
Reduces beta-carotene conversion to vitamin A (retinol) by ~32% per T allele,...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs7946
|
PEMT
Val175Met
|
Phosphatidylcholine production — affects dietary choline requirements
|
Methylation & Detox
|
|
Strong
|
|
rs12934922
|
BCO1
Arg267Ser
|
Reduces beta-carotene to retinol (vitamin A) conversion efficiency, contribut...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs6511720
|
LDLR
Intron 1
|
Common regulatory variant in the LDL receptor gene affecting LDLR expression,...
|
Heart & Inflammation
|
|
Strong
|
|
rs10830963
|
MTNR1B
Intron C>G
|
Melatonin receptor variant that extends nighttime melatonin signaling in panc...
|
Hormones & Sleep
|
|
Established
|
|
rs12740374
|
SORT1
1p13.3 locus
|
Regulatory variant that increases sortilin expression, lowering LDL cholester...
|
Heart & Inflammation
|
|
Established
|
|
rs2241880
|
ATG16L1
T300A
|
Autophagy gene variant affecting bacterial clearance in gut epithelial cells,...
|
Immune & Gut
|
|
Established
|
|
rs4588
|
GC
Thr436Lys
|
Alters vitamin D binding protein affinity, affecting total and bioavailable 2...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs671
|
ALDH2
*2
|
Alcohol metabolism - flush reaction and cancer risk
|
Pharmacogenomics
|
|
Established
|
|
rs5128
|
APOC3
3238C>G (SstI)
|
Regulates triglyceride metabolism through effects on APOC3 expression in the ...
|
Heart & Inflammation
|
|
Strong
|
|
rs7041
|
GC
Asp432Glu
|
Vitamin D binding protein variant that determines VDBP isoform, affecting vit...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs13107325
|
SLC39A8
A391T
|
Zinc and manganese transporter variant that reduces metal ion absorption, aff...
|
Immune & Gut
|
|
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
|
|
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
|
|
rs33972313
|
SLC23A1
Val264Met
|
Primary intestinal and renal vitamin C transporter — variant reduces ascorbat...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs662799
|
APOA5
-1131T>C
|
Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase ...
|
Heart & Inflammation
|
|
Strong
|
|
rs6994076
|
TTPA
-980T>A
|
Regulates expression of the alpha-tocopherol transfer protein, the key determ...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1333049
|
CDKN2B-AS1
9p21 locus
|
Strongest GWAS signal for coronary artery disease; risk C allele accelerates ...
|
Longevity & Aging
|
|
Established
|
|
rs1501299
|
ADIPOQ
+276G>T
|
Intronic variant in the adiponectin gene that influences circulating adiponec...
|
Heart & Inflammation
|
|
Moderate
|
|
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
|
|
rs1799945
|
HFE
H63D
|
Second most common hereditary hemochromatosis variant, mildly increasing iron...
|
Nutrition & Metabolism
|
|
Established
|
|
rs2241766
|
ADIPOQ
T45G
|
Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability...
|
Heart & Inflammation
|
|
Moderate
|
|
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
|
|
rs35333999
|
PER2
V903I
|
Missense variant in core circadian clock gene PER2 that lengthens intrinsic c...
|
Hormones & Sleep
|
|
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
|
|
rs11605924
|
CRY2
Intron Variant
|
Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol...
|
Hormones & Sleep
|
|
Strong
|
|
rs17782313
|
MC4R
Near-gene C>T
|
Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs4977574
|
CDKN2B-AS1
9p21.3
|
Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary arter...
|
Heart & Inflammation
|
|
Established
|
|
rs738409
|
PNPLA3
I148M
|
Strongest genetic risk factor for non-alcoholic fatty liver disease, progress...
|
Nutrition & Metabolism
|
|
Established
|
|
rs4988235
|
LCT
-13910C>T
|
Lactase persistence - ability to digest lactose (milk sugar) in adulthood
|
Methylation & Detox
|
|
Established
|
|
rs58542926
|
TM6SF2
E167K
|
Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs2943641
|
IRS1
Near-gene C>T
|
Regulates insulin signaling efficiency and cellular glucose uptake
|
Nutrition & Metabolism
|
|
Strong
|
|
rs17300539
|
ADIPOQ
-11391G>A
|
Promoter variant affecting adiponectin secretion and metabolic syndrome risk
|
Nutrition & Metabolism
|
|
Strong
|
|
rs366631
|
GSTM1
Tag SNP for gene deletion
|
Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomi...
|
Methylation & Detox
|
|
Strong
|
|
rs4994
|
ADRB3
Trp64Arg
|
Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipo...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs1048943
|
CYP1A1
Ile462Val (*2C)
|
Phase I detoxification enzyme that activates polycyclic aromatic hydrocarbons...
|
Methylation & Detox
|
|
Strong
|
|
rs1800592
|
UCP1
A-3826G
|
Promoter variant reducing UCP1 expression in brown adipose tissue, impairing ...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs660339
|
UCP2
Ala55Val
|
Missense variant reducing mitochondrial uncoupling efficiency in white adipos...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs1800849
|
UCP3
-55C>T
|
Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 ...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs5082
|
APOA2
-265T>C
|
Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consumi...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs7799039
|
LEP
G-2548A
|
Promoter variant that increases leptin gene expression in adipose tissue, ele...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs1042571
|
POMC
|
3'UTR variant in the appetite-suppression gene POMC that disrupts miRNA bindi...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs3827103
|
MC3R
|
Common MC3R missense variant that reduces receptor expression and shifts nutr...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs2304795
|
PLIN1
|
Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated wit...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs7566605
|
INSIG2
|
Upstream regulatory variant near INSIG2 that influences lipogenesis control a...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs10423928
|
GIPR
|
Intronic GIPR variant that reduces functional GIP receptor expression via alt...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs2605100
|
LYPLAL1
|
Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs2815752
|
NEGR1
|
Top obesity GWAS variant near NEGR1 — affects hypothalamic appetite regulatio...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs987237
|
TFAP2B
|
Adipocyte transcription factor variant influencing central fat distribution a...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs2241423
|
MAP2K5
|
MAPK signaling variant in MAP2K5 associated with BMI through altered adipogen...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs4654748
|
NBPF3
|
Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common geneti...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1256335
|
ALPL
|
Intronic variant near ALPL associated with increased alkaline phosphatase act...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs61735836
|
FTCD
|
Missense variant in the FTCD enzyme that impairs one-carbon unit transfer fro...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1532085
|
LIPC
|
Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels wh...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs174537
|
FADS1
|
Regulatory variant in the FADS1 locus that controls delta-5 desaturase expres...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs780094
|
GCKR
|
Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs10938397
|
GNPDA2
|
GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs2642438
|
MTARC1
p.Ala165Thr (A165T)
|
Protective missense variant that reduces MTARC1 protein stability, cutting he...
|
Nutrition & Metabolism
|
|
Established
|
|
rs4240624
|
PPP1R3B
Near-gene variant
|
Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs2954021
|
TRIB1
|
Near-gene variant influencing hepatic lipid metabolism; G allele raises trigl...
|
Nutrition & Metabolism
|
|
Established
|
|
rs7834555
|
BCO1
|
Intergenic GWAS tag SNP near the BCO1 pathway, associated with circulating be...
|
Nutrition & Metabolism
|
|
Emerging
|
|
rs3733591
|
SLC2A9
Arg265His
|
Missense variant in the major renal urate transporter; the Arg265 (C) allele ...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs641738
|
MBOAT7
|
Regulatory variant that reduces MBOAT7 expression in the liver, impairing pho...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs2282679
|
GC
|
Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...
|
Nutrition & Metabolism
|
|
Established
|
|
rs505802
|
SLC22A12
|
Upstream regulatory variant in the URAT1 urate reabsorption transporter gene;...
|
Nutrition & Metabolism
|
|
Established
|
|
rs2078267
|
SLC22A11
|
Intronic variant in the OAT4 renal urate transporter that modulates uric acid...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs6013897
|
CYP24A1
|
Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — ...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs1260326
|
GCKR
P446L
|
Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs6564851
|
BCO1
|
Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs17321515
|
TRIB1
|
Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs3760775
|
FUT6
|
Near-gene regulatory variant near FUT6 that reduces fucosyltransferase expres...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs6053005
|
SLC23A2
|
Intronic variant in the SVCT2 tissue vitamin C transporter — associated with ...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs6133175
|
SLC23A2
|
Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes c...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs11942223
|
SLC2A9
|
Intronic SLC2A9 variant tagging an independent urate-transport signal; the pr...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs4841132
|
PPP1R3B
|
Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu...
|
Nutrition & Metabolism
|
|
Strong
|
|
rs6420424
|
BCO1
|
Upstream regulatory variant near BCO1 that reduces beta-carotene to vitamin A...
|
Nutrition & Metabolism
|
|
Moderate
|
|
rs16890979
|
SLC2A9
|
Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile ...
|
Nutrition & Metabolism
|
|
Moderate
|