|
rs1044250
|
ANGPTL4
T266M
|
Protective missense variant that reduces LPL inhibition, lowering fasting tri...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs11072566
|
NRG4
NRG4 Variant
|
Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enr...
|
Liver Fat
|
|
Emerging
|
|
rs10846744
|
SCARB1
|
Intronic SCARB1 variant associated with altered HDL-receptor function, subcli...
|
Cholesterol & Lipoproteins
|
|
Moderate
|
|
rs116843064
|
ANGPTL4
ANGPTL4 E40K
|
Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, low...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs11857380
|
LIPC
|
Intronic LIPC variant tagging reduced hepatic lipase expression; G allele ass...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs1260326
|
GCKR
P446L
|
Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...
|
Liver Fat
|
|
Strong
|
|
rs12678919
|
LPL
|
Intergenic variant 19 kb downstream of lipoprotein lipase (LPL) that tags a r...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs11568822
|
APOC1
APOC1 HCR-1 promoter variant
|
Promoter insertion variant in APOC1 that increases gene transcription by 50%,...
|
Cholesterol & Lipoproteins
|
|
Moderate
|
|
rs13236689
|
CD36
|
Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface e...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs13702
|
LPL
|
LPL 3'UTR variant disrupting a microRNA-410 binding site; the C allele abolis...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs1800588
|
LIPC
-514C>T
|
Promoter variant that reduces hepatic lipase activity, raising HDL-C levels b...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs1800591
|
MTTP
MTTP -493G/T
|
Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the ...
|
Liver Fat
|
|
Moderate
|
|
rs150090666
|
PDE3B
PDE3B R783X
|
Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAM...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs199673455
|
GPD1
|
Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygo...
|
Liver Fat
|
|
Strong
|
|
rs1532085
|
LIPC
|
Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels wh...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2131925
|
ANGPTL3
DOCK7/ANGPTL3 Locus Tag SNP
|
Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs2642438
|
MTARC1
p.Ala165Thr (A165T)
|
Protective missense variant that reduces MTARC1 protein stability, cutting he...
|
Liver Fat
|
|
Established
|
|
rs17321515
|
TRIB1
|
Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs4240624
|
PPP1R3B
Near-gene variant
|
Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat...
|
Liver Fat
|
|
Strong
|
|
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
|
|
rs4225
|
APOC3
APOC3 3'UTR c.*71G>T
|
3'UTR variant that creates a microRNA-4271 binding site; the T allele suppres...
|
Atherogenic Lipoproteins
|
|
Moderate
|
|
rs4841132
|
PPP1R3B
|
Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu...
|
Liver Fat
|
|
Strong
|
|
rs174541
|
FADS1
FADS1 C>G (delta-5 desaturase depth)
|
Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
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
|
|
rs17465637
|
MIA3
|
Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo...
|
Coronary Artery Disease & Atherosclerosis
|
|
Strong
|
|
rs11868035
|
SREBF1
|
SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs12447924
|
CETP
|
Upstream promoter variant in CETP that tags the HDL-raising haplotype block —...
|
Cholesterol & Lipoproteins
|
|
Moderate
|
|
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
|
|
rs5174
|
LRP8
LRP8 R952Q
|
Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi...
|
Atherogenic Lipoproteins
|
|
Moderate
|
|
rs613084
|
CPT1A
CPT1A carnitine shuttle variant
|
Intronic variant that influences CPT1A expression and fatty acid oxidation ca...
|
Liver Fat
|
|
Moderate
|
|
rs1801175
|
G6PC1
|
Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...
|
Metabolic Enzymes & Rare Disorders
|
|
Established
|
|
rs2229616
|
MC4R
V103I
|
Missense variant in MC4R converting valine to isoleucine at position 103; the...
|
Appetite & Obesity
|
|
Strong
|
|
rs641738
|
MBOAT7
|
Regulatory variant that reduces MBOAT7 expression in the liver, impairing pho...
|
Liver Fat
|
|
Strong
|
|
rs174568
|
FADS2
FADS2 C>T (delta-6 desaturase)
|
Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-li...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs1800206
|
PPARA
Leu162Val (L162V)
|
Missense variant in PPARA that reduces receptor transcriptional activity, ele...
|
Fitness & Body
|
|
Moderate
|
|
rs738409
|
PNPLA3
I148M
|
Strongest genetic risk factor for non-alcoholic fatty liver disease, progress...
|
Liver Fat
|
|
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
|
|
rs17482753
|
LPL
LPL G>T (Intergenic Variant)
|
Intergenic variant near the lipoprotein lipase gene on 8p21.3 with an indepen...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs693
|
APOB
XbaI (C/T)
|
Silent variant affecting LDL particle number and lipid metabolism; A allele c...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs2575876
|
ABCA1
|
Intronic ABCA1 variant associated with HDL-C levels under a recessive model; ...
|
Cholesterol & Lipoproteins
|
|
Moderate
|
|
rs2000813
|
LIPG
|
Missense variant in endothelial lipase that tags a regulatory haplotype assoc...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs2073658
|
USF1
USF1 FCHL Variant
|
Intronic USF1 variant; the T allele disrupts insulin-responsive USF1 regulati...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2197089
|
LPL
LPL Regulatory Variant
|
Downstream regulatory variant affecting LPL expression and triglyceride clear...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2542052
|
APOC3
|
Promoter variant that reduces APOC3 expression, associated with lower triglyc...
|
Longevity & Aging
|
|
Strong
|
|
rs2278236
|
ANGPTL4
ANGPTL4 Intronic Variant
|
Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is asso...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
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
|
|
rs2605100
|
LYPLAL1
|
Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat...
|
Fat Storage & Energy
|
|
Strong
|
|
rs2854116
|
APOC3
T-455C
|
APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs2854117
|
APOC3
APOC3 C-482T
|
Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipo...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs2919872
|
FABP1
FABP1 Promoter Variant
|
Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) th...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs2954021
|
TRIB1
|
Near-gene variant influencing hepatic lipid metabolism; G allele raises trigl...
|
Triglycerides & Fatty Acids
|
|
Established
|
|
rs3135506
|
APOA5
S19W
|
Triglyceride metabolism - affects fasting triglyceride levels and cardiovascu...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs7799039
|
LEP
G-2548A
|
Promoter variant that increases leptin gene expression in adipose tissue, ele...
|
Appetite & Obesity
|
|
Moderate
|
|
rs3774261
|
ADIPOQ
ADIPOQ rs3774261
|
Intronic ADIPOQ variant that reduces circulating adiponectin levels in G alle...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs3816873
|
MTTP
MTTP I128T
|
Missense variant in MTTP (microsomal triglyceride transfer protein) at residu...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs838880
|
SCARB1
|
3' UTR variant in SCARB1 that tags a haplotype with reduced SR-BI expression ...
|
Cholesterol & Lipoproteins
|
|
Strong
|
|
rs2943641
|
IRS1
Near-gene C>T
|
Regulates insulin signaling efficiency and cellular glucose uptake
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs3829462
|
LIPC
|
Missense variant in hepatic lipase encoding p.Phe356Leu; the rare C allele (P...
|
Triglycerides & Fatty Acids
|
|
Emerging
|
|
rs3834458
|
FADS2
|
A 3-bp deletion in intron 3 of FADS2 that reduces delta-6 desaturase activity...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs4148102
|
ABCG1
ABCG1 intronic PUFA-interaction variant
|
Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifi...
|
Triglycerides & Fatty Acids
|
|
Emerging
|
|
rs4775065
|
LIPC
|
Intronic LIPC variant associated with susceptibility to low HDL-C and coronar...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs4939883
|
LOC105372112
|
Intronic variant near LIPG whose T allele increases circulating endothelial l...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs5082
|
APOA2
-265T>C
|
Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consumi...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs57137919
|
ABCG1
|
ABCG1 promoter variant that reduces transporter expression, impairing macroph...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs692383
|
ABCG1
ABCG1 HDL-c Variant
|
Intronic variant in the ABCG1 cholesterol efflux transporter gene associated ...
|
Triglycerides & Fatty Acids
|
|
Emerging
|
|
rs964184
|
ZNF259
ZNF259/BUD13 Triglyceride Variant
|
Common regulatory variant at the APOA5-ZNF259 locus; G allele reduces ApoAV p...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs968567
|
FADS2
FADS2 Promoter D6D Activity Variant
|
Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression ...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs9951026
|
LIPG
|
Intronic LIPG variant that tags a haplotype associated with higher LDL choles...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
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
|