| PPARA |
rs1800206 |
CC |
moderate
|
2
|
Peroxisome proliferator - fatty acid oxidation |
| SDHD |
rs11214077 |
AA |
moderate
|
2
|
SDHD - paraganglioma type 1 |
| TSHR |
rs4947296 |
TT |
moderate
|
2
|
TSH receptor - Graves disease |
| SLC22A12 |
rs505802 |
TT |
moderate
|
2
|
URAT1 - urate reabsorption |
| TFR2 |
rs7385804 |
AA |
moderate
|
2
|
TFR2 - hemochromatosis type 3 |
| DNMT3A |
rs2289195 |
GG |
moderate
|
2
|
DNMT3A - CHIP/cardiovascular |
| DNMT3B |
rs2424913 |
TT |
moderate
|
2
|
DNMT3B - cancer/methylation |
| EZH2 |
rs3757441 |
TT |
moderate
|
2
|
EZH2 - histone methyltransferase |
| TMEM18 |
rs6548238 |
CC |
moderate
|
2
|
TMEM18 - early-onset obesity |
| GRB14 |
rs10195252 |
TT |
moderate
|
2
|
GRB14 - waist-hip ratio |
| KCNJ11 |
rs5219 |
TT |
moderate
|
2
|
KCNJ11 - potassium/diabetes |
| TMPRSS6 |
rs855791 |
GG |
moderate
|
2
|
TMPRSS6 V736A - iron/hepcidin |
| SLC30A8 |
rs13266634 |
CC |
moderate
|
2
|
ZnT8 - zinc/T2D beta-cell |
| CYP27A1 |
rs933994 |
TT |
moderate
|
2
|
CYP27A1 - alternative 25-hydroxylase |
| MT-ND4L |
rs2853826 |
A |
low
|
1
|
Mitochondrial complex I |
| SOD1 |
rs2070424 |
AG |
low
|
1
|
Cu/Zn superoxide dismutase |
| ACTN3 |
rs1815739 |
CT |
low
|
1
|
R577X - sprint vs endurance |
| CDKN1B |
rs2066827 |
GT |
low
|
1
|
CDKN1B - MEN4/pituitary adenoma |
| RET |
rs1800861 |
GT |
low
|
1
|
RET - MEN2/pheochromocytoma |
| RET |
rs1800860 |
AG |
low
|
1
|
RET - MEN2 modifier |
| FOXE1 |
rs965513 |
AG |
low
|
1
|
FOXE1 - thyroid cancer/function |
| CD28 |
rs1980422 |
CT |
low
|
1
|
CD28 - Graves disease |
| MC4R |
rs17782313 |
CT |
low
|
1
|
MC4R - appetite/satiety |
| MC4R |
rs571312 |
AC |
low
|
1
|
MC4R - obesity susceptibility |
| PCSK1 |
rs6235 |
CG |
low
|
1
|
PCSK1 - prohormone convertase |
| LEPR |
rs1137101 |
AG |
low
|
1
|
Leptin receptor - obesity |
| HMGA2 |
rs1042725 |
CT |
low
|
1
|
HMGA2 - strongest height SNP |
| EGF |
rs4444903 |
AG |
low
|
1
|
EGF - TRPM6 regulation |
| NAT2 |
rs1495741 |
AG |
low
|
1
|
NAT2 - novel iron GWAS locus |
| DHCR7 |
rs11234027 |
AG |
low
|
1
|
DHCR7 - vitamin D3 production |
| VDR |
rs7975232 |
AC |
low
|
1
|
VDR ApaI - calcium absorption |
| DIO2 |
rs225014 |
CT |
low
|
1
|
DIO2 Thr92Ala - T4→T3 conversion impaired |
| FUT6 |
rs602662 |
AG |
low
|
1
|
FUT6 - vitamin B12 levels GWAS |
| MT-ND6 |
rs3928306 |
G |
low
|
0
|
NADH dehydrogenase |
| MT-CYB |
rs2857284 |
T |
low
|
0
|
Electron transport |
| MT-RNR1 |
rs267606617 |
A |
low
|
0
|
12S rRNA - ototoxicity |
| PPARGC1A |
rs8192678 |
TT |
low
|
0
|
Gly482Ser - metabolic efficiency |
| SOD2 |
rs1053517 |
AG |
low
|
0
|
Ala16Val - mitochondrial antioxidant |
| SOD2 |
rs4880 |
AG |
low
|
0
|
MnSOD - ROS protection |
| PPARD |
rs2016520 |
TT |
low
|
0
|
PPAR delta - metabolic switch |
| CPT1A |
rs272893 |
CT |
low
|
0
|
Rate-limiting for fat oxidation |
| FOXO3 |
rs2802292 |
TT |
low
|
0
|
Stress resistance, autophagy |
| TOMM40 |
rs2075650 |
AA |
low
|
0
|
Translocase of outer membrane |
| NR3C1 |
rs6190 |
CC |
low
|
0
|
Glucocorticoid receptor N363S sensitivity |
| STAR |
rs6850 |
-- |
low
|
0
|
StAR protein - steroidogenesis |
| GH1 |
rs2665802 |
AA |
low
|
0
|
Growth hormone - GH deficiency |
| CASR |
rs1801725 |
GG |
low
|
0
|
Calcium-sensing receptor - FHH/hyperparathyroid |
| CASR |
rs1042636 |
AA |
low
|
0
|
CASR - calcium sensing variant |
| TSHR |
rs179247 |
GG |
low
|
0
|
TSHR - Graves susceptibility |
| PTPN22 |
rs2476601 |
GG |
low
|
0
|
PTPN22 - autoimmune thyroid |
| SDHD |
|
AA |
low
|
0
|
SDHD - paraganglioma type 1 |
| TSHR |
|
TT |
low
|
0
|
TSH receptor - Graves disease |
| FECH |
rs2272783 |
AA |
low
|
0
|
FECH - erythropoietic protoporphyria |
| ALAD |
rs1800435 |
CC |
low
|
0
|
ALAD - ALA dehydratase porphyria |
| PAH |
rs5030855 |
CC |
low
|
0
|
PAH - phenylketonuria |
| CBS |
rs121964962 |
CC |
low
|
0
|
CBS - homocystinuria |
| SLC2A9 |
rs12498742 |
AA |
low
|
0
|
SLC2A9 GLUT9 - uric acid |
| ABCG2 |
rs2231142 |
GG |
low
|
0
|
ABCG2 Q141K - urate efflux |
| SLC17A1 |
rs1183201 |
TT |
low
|
0
|
SLC17A1 - urate transport |
| ADA |
rs73598374 |
CC |
low
|
0
|
ADA - adenosine deaminase |
| HFE |
rs1800730 |
AA |
low
|
0
|
HFE S65C - hemochromatosis modifier |
| FTO |
rs9939609 |
TT |
low
|
0
|
FTO - m6A RNA demethylase/obesity |
| JAK2 |
rs77375493 |
GG |
low
|
0
|
JAK2 V617F - CHIP/myeloproliferative |
| SLC22A12 |
|
TT |
low
|
0
|
URAT1 - urate reabsorption |
| TFR2 |
|
AA |
low
|
0
|
TFR2 - hemochromatosis type 3 |
| DNMT3A |
|
GG |
low
|
0
|
DNMT3A - CHIP/cardiovascular |
| DNMT3B |
|
TT |
low
|
0
|
DNMT3B - cancer/methylation |
| EZH2 |
|
TT |
low
|
0
|
EZH2 - histone methyltransferase |
| FTO |
rs9939609 |
TT |
low
|
0
|
FTO - strongest BMI GWAS signal |
| FTO |
rs1421085 |
TT |
low
|
0
|
FTO - fat mass regulation |
| LYPLAL1 |
rs2605100 |
GG |
low
|
0
|
LYPLAL1 - fat distribution |
| ADAMTS9 |
rs6795735 |
TT |
low
|
0
|
ADAMTS9 - WHR |
| GDF5 |
rs143384 |
GG |
low
|
0
|
GDF5 - height/osteoarthritis |
| ZBTB38 |
rs6763931 |
AG |
low
|
0
|
ZBTB38 - height GWAS |
| KCNQ1 |
rs2237892 |
CC |
low
|
0
|
KCNQ1 - Long QT/potassium |
| CASR |
rs1801725 |
GG |
low
|
0
|
Calcium-sensing receptor |
| TRPM6 |
rs2274924 |
CT |
low
|
0
|
TRPM6 - magnesium channel |
| GC |
rs4588 |
GG |
low
|
0
|
Vitamin D binding protein |
| GC |
rs7041 |
CC |
low
|
0
|
GC - vitamin D transport |
| GC |
rs2282679 |
TT |
low
|
0
|
GC - vitamin D levels GWAS |
| CYP27B1 |
rs4646536 |
GG |
low
|
0
|
1-alpha-hydroxylase - calcitriol |
| HFE |
rs1800562 |
GG |
low
|
0
|
HFE C282Y - hemochromatosis |
| HFE |
rs1799945 |
CC |
low
|
0
|
HFE H63D - iron overload |
| TF |
rs3811647 |
GG |
low
|
0
|
Transferrin - serum iron levels |
| SLC39A8 |
rs13107325 |
CC |
low
|
0
|
ZIP8 - zinc/manganese transport |
| GPX1 |
rs1050450 |
AG |
low
|
0
|
GPX1 - glutathione peroxidase |
| SELENOP |
rs7579 |
CT |
low
|
0
|
Selenoprotein P - selenium transport |
| TMEM18 |
|
CC |
low
|
0
|
TMEM18 - early-onset obesity |
| GRB14 |
|
TT |
low
|
0
|
GRB14 - waist-hip ratio |
| KCNJ11 |
|
TT |
low
|
0
|
KCNJ11 - potassium/diabetes |
| TMPRSS6 |
|
GG |
low
|
0
|
TMPRSS6 V736A - iron/hepcidin |
| SLC30A8 |
|
CC |
low
|
0
|
ZnT8 - zinc/T2D beta-cell |
| GBA1 |
rs421016 |
-- |
low
|
0
|
GBA1 L444P - Gaucher type 2/3 |
| CPT2 |
rs121434282 |
GG |
low
|
0
|
CPT2 - CPT II deficiency |
| ASL |
rs104894396 |
CC |
low
|
0
|
ASL - argininosuccinic aciduria |
| CYP2R1 |
rs1562902 |
CC |
low
|
0
|
CYP2R1 - vitamin D metabolism |
| VDR |
rs2228570 |
AG |
low
|
0
|
VDR FokI - transcriptional activity |
| VDR |
rs1544410 |
CT |
low
|
0
|
VDR BsmI - bone mineral density |
| VDR |
rs731236 |
AA |
low
|
0
|
VDR TaqI - vitamin D activity |
| DIO1 |
rs11206244 |
CC |
low
|
0
|
DIO1 - selenoprotein deiodinase (T4→T3 conversion) |
| SLC25A4 |
rs121434277 |
GG |
low
|
0
|
SLC25A4/ANT1 - adenine nucleotide translocase |
| TFAM |
rs2020917 |
CC |
low
|
0
|
TFAM - mitochondrial transcription factor A |
| PGC1A |
rs7170989 |
CT |
low
|
0
|
PGC-1alpha - mitochondrial biogenesis master regulator |
| PPARGC1A |
rs8192678 |
TT |
low
|
0
|
PPARGC1A Gly482Ser - mitochondrial function/T2D |
| UCP3 |
rs1800849 |
AA |
low
|
0
|
UCP3 - uncoupling protein 3 (fat oxidation) |
| NBPF3 |
rs4654748 |
CC |
low
|
0
|
NBPF3 - B6 levels |
| CYP27A1 |
|
TT |
low
|
0
|
CYP27A1 - alternative 25-hydroxylase |