Listado unitario de SNPs

2010 Listado unitario de SNPs EUGENOMIC 05/10/2010

EUGENOMIC, ofrecer la determinación de unos 200 SNP de forma unitaria, es decir la posibilidad de personalizar para cad problema en cada paciente los SNP adecuados a la carta. Mostramos el listado de SNP disponibles, ordenados por orden alfabético. 2

ALPHA 1-ANTITRYPSIN AAT [PiM, PiS] rs17580 613490 Hereditary AT deficiency, Emphysema, COPD, ALPHA 1-ANTITRYPSIN AAT [PiM, PiZ] rs28929474 613490 Hepatitis ADDUCIN 1 ADD1 [G460W] rs4961 102680 Hypertension, salt sensitivity ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN ALOX5AP rs10507391& rs4769874 603700 Myocardial infarction, ischemic stroke ANDROGENE RECEPTOR AR (E213E] rs6152 313700 Baldness ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1 ABC1A1 [R219K] rs2230806 600046 AMILORIDE-BINDING PROTEIN1 ABP1 [F332S] rs1049742 104610 AMILORIDE-BINDING PROTEIN 1 ABP1 [H645D] rs1049793 104610 AMILORIDE-BINDING PROTEIN 1 ABP1 [T16M] rs10156191 104610 cholesterol efflux pump in the cellular lipid removal pathway, for example role in hypercholesterinemia Histamine intolerance ANGIOTENSIN I-CONVERTING ENZYME ACE [I/D] rs4646994 106180 RAAS, Myocardial infarction, diabetic nephropathy, stroke hemorrhagic, stroke ischemic, stature as a quantative trait,severe acute respiratory syndrome, IgA nephropathy, progression to renal failure ACTININ, ALPHA-3 ACTN3 ex15 [R577X] rs1815739 102574 Fast twitch versus slow twitch muscle fibers ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2 ADH2 [R370C] rs2066702 103720 ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2 ADH2 [R47H] rs1229984 103720 BALDNESS BETA-1-ADRENERGIC RECEPTOR Chr20 rs1160312, rs913063, rs2180439 612421 ADR B1 [R389G]; [G1251C] rs1801253 109630 Ethanol metabolism Risk alopecia, recommended to do the analysis together with AR [E213E] Lipid metabolism, Receptor for epinephrine, blood pressure, ADR B2 [R16G]; rs1042713, BETA-2-ADRENERGIC RECEPTOR [Q27E] rs1042714 109690 Lipid metabolism, Metabolic syndrom BETA-3-ADRENERGIC RECEPTOR ADR B3 [W64R] rs4994 109691 Lipid metabolism, metabolic syndrom ANGIOTENSIN I AGT [M235T] rs699 106150 Elevated risk CAD, CHD, better benefit of an ACE therapy depending on the existing genotype 3

ANGIOTENSIN RECEPTOR 1 AGTR1 [C907T] rs5182 106165 hypertension, MI ANGIOTENSIN RECEPTOR 1 AGTR1 (A1166C) rs5186 106165 hypertension, MI ANGIOTENSIN II RECEPTOR, TYPE 2 AGTR2 [ex3-3 UTR] rs5193 300034 RAAS, hypertension, elevated risk myocardial infarctus ATG16 autophagy related 16-like 1 ATG[16L1] rs2241880 610767 Crohn's disease DELTA-AMINOLEVULINATE DEHYDRATASE ALAD [K68N] rs1800435 125270 Metabolism heavy metals (for example mercury). ALDOLASE B Aldo B [A149P]; rs1800546 612724 ALDOLASE B Aldo B [A174P] rs76917243 612724 Hereditary fructose intolerance ALDOLASE B AldoB [N344K] rs78340951 612724 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1 APM1 [G276T] rs1501299 605441 Adipositas, cardiovascular disease, type II diabetes Variation of adiponectin concentration in blood, ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN- predisposition type II diabetes, adiposistas, CONTAINING; APM1 [G3G]; [T45G] rs2241766 605441 cardiovascular diesease AGE-RELATED MACULOPATHY SUCEPTIBILITY PROTEIN ARMS2 [A69S] rs10490924 2 610149 AMD APOLIPOPROTEIN A-I APOA1 (MspI) rs2893157 107680 Lipid metabolism (elevated HDL) APOLIPOPROTEIN A-V APOA5 [T-1131C] rs662799 606368 Lipidmetabolism (elevated triglycerides) APOLIPOPROTEIN B ApoB (codon 3500) APOLIPOPROTEIN C-III APOLIPOPROTEIN E BACTERIA BACTERIA BACTERIA BACTERIA BACTERIA APOCIII [C3238G] ApoE (E2/E3/E4) Aa: Actinobacillus Pi: Prevotella Pg: Porphyrromonas Td: Treponoma Tf/Bf: Bacteroides rs5742904, rs12713559 107730 Lipidmetabolism (elevated LDL) rs2854116, rs2854117, rs12721082 107720 Lipidmetabolism, (elevated triglycerides) rs429358, rs7412 107741 no point mutation Lipidmetabolism (E4 = marker for Alzheimer disease, late onset, (elevated cholesterol, LDL, ApoB) Most important bacterial markers for parodontosis 4

B-CELL LYMPHOMA 6 BCL6 [Asp387Asp] rs1056932 109565 Non hereditary mamma carcinoma, best in combination with CYP11B2 and CYP1B1 BONE MORPHOGENETIC PROTEIN 2 BMP2 [S37A] rs2273073 112261 induces bone and cartilage formation, Osteoporosis BRAIN DERIVED NEUROTROPHIC FACTOR BDNF [V66M] rs6265 113505 Amalgam heavy metal detox CALCITONIN RECEPTOR CATALASE CALCR [Pro463Leu] or [Pro447Leu] rs1801197 114131 Osteoporosis CAT ex4/int4 [I/D358, exon4] or [G5A, intron4] 115500 Oxidative stress CARNITINE PALMITOYLTRANSFERASE 1B CPT1B rs5770917 601987 Narcolepsy CYSTATHIONINE-BETA-SYNTHASE CBS rs5742905 613381 Homocystein metabolism Regulation -> cell cycle; non hereditary mamma CYCLIN D1 CCND1 [G870A] rs603965 168461 carcinoma CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA CETP [I405V] rs5882 118470 Lipidmetabolism, special HDL CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA CETP taq 1 [intron A - G279A ] rs708272 118470 Lipidmetabolism, special HDL COMPLEMENT FACTOR H CFH[Y402H] rs1061170 610698 AMD CHROMOSOME 8 CHR8 rs7014346 611469 Risk colo rectal cancer CHROMOSOME 9 CHR9 rs719725 Risk colo rectal cancer CHROMOSOME 18 CHR18 rs1785062 Obesity and Diabethe typ2 CHROMOSOME 11 OPEN READING FRAME 92 FLJ rs3802842 612232 Risk colo rectal cancer CHOLINERGIC RECEPTOR 2, MUSCARIN CHRM2 KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG c-kit [D816V] 164920 leukemia CANNABINOID RECEPTOR 1 rs1824024 & rs2061174 118493 alcohol dependence; major depressive syndrome CNR 1 [T453]; [G1422A] rs1049353 114610 Adipositas CANNABINOID RECEPTOR 2 CNR 2 [L251] rs4649124 605051 Osteoporosis COLLAGEN, TYPE I, ALPHA-1 Col1A1 (SP1) rs1800012 120150 Osteoporosis 5

CATECHOL-O-METHYLTRANSFERASE COMT [V-158M] rs4680 116790 Estrogen metabolism, non hereditary mamma carcinoma CHAPERONIN 10 CPN10 [G4852A] rs3792267 600141 Metabolic syndrome, type II diabetes COPORPHYRINOGEN OXIDASE 4 CPOX-4 [N272H] rs1131857 612732 Heavy metal metabolism (mercury) COPORPHYRINOGEN OXIDASE 5 CPOX-5 [E330E] rs1729995 612732 Heavy metal metabolism (mercury) C-REACTIVE PROTEIN, PENTRAXIN-RELATED CRP [C-717T] rs2794521 123260 Inflammation, atherosclerosis, type II diabetes CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4 CTL A 4 [A49G] [Thr17Ala] rs231775 123890 predisposition type1 diabetes CYTOCHROME b-245, ALPHA POLYPEPTIDE CYBA [Y72H] [C242T] rs4673 608508 Cerebral ischemia CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1 CYP11B1 [Ala386Val] rs4541 610613 Non hereditary mamma carcinoma CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1 CYP17 rs743572 609300 Steroid metabolism, non hereditary mamma carcinoma CYTOCHROME P450, FAMILY 19, SUBFAMILY A, Steroid metabolism, non hereditary mamma POLYPEPTIDE 1 CYP19A1 [3 UTR T/C] rs10046 107910 carcinoma CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 CYP1A1*2A rs2606345 108330 Phase I detoxification, Drug metabolism CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 CYP1A2*C rs2069514 124060 Phase I detoxification, Drug metabolism CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 CYP1A2*F rs762551 124060 Phase I detoxification, Drug metabolism CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6 CYP2A6*2,*3,*4 rs1801272 122720 Phase I detoxification, Drug metabolism Estrogen metabolism, HRT, non hereditary mamma CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 CYP1B1*3 rs1056836 601771 carcinoma CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6 CYP2B6*4 rs2279343 123930 Phase I detoxification, Drug metabolism CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9 CYP2C8*2,*3,*4 CYP2C19*2,*3 CYP2C9*2,*3 rs11572103 rs10509681, rs11572080, rs1058930 601129 Drug metabolism rs4986893, rs4244285 124020 Phase I detoxification, Drug metabolism rs1799583, rs1057910 601130 Phase I detoxification, Drug metabolism 6

CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 *3 cf thm 124030 Phase I detoxification,drug metabolism CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6*4 rs3892097 124030 Phase I detoxification,drug metabolism CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6*6 rs5030655 124030 Phase I detoxification,drug metabolism CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6*7 rs5030867 124030 Phase I detoxification,drug metabolism CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6*8 rs5030865 124030 Phase I detoxification,drug metabolism CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6*2x no point mutation 124030 Phase I detoxification, Drug metabolism, xenobiotics, ultraextensive metabolizer phenotype CYTOCHROME P450, SUBFAMILY IIE CYP2E1*5A, *5B,*6 rs2031920 124040 Phase I detoxification, Drug metabolism, EtOH metabolism CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4 CYP3A4*1B rs2740574 124010 Phase I detoxification,drug metabolism, xenobiotics CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5 CYP3A5*3C rs776746 605325 Phase I detoxification, Drug metabolism, xenobiotics DIHYDROPYRIMIDINE DEHYDROGENASE DPD [R235W] rs1801266 612779 Pharmacogenetic HLA DQ2 and HLA DQ8 DQ2 / DQ8 No point mutation 146880 Celiac disease 608774 Different drug dependencies, symptoms of attention DOPAMINE RECEPTOR D2 DRD2 [Taq I] rs1800497 deficit ELAC, E. COLI, HOMOLOG OF, 2 ELAC2 [A541T] rs34152967 605367 Prostate cancer hereditary, HPC2 included EPIDERMAL GROWTH FACTOR RECEPTOR (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) EGFR [D994D] rs2293347 NSCLC patient, better Gefitinib response EXCISION REPAIR CROSS-COMPLEMENTING RODENT ERCC2=XPD [K751Q] rs13181 REPAIR DEFICIENCY, COMPLEMENTATION GROUP2 126340 Skin cancer NITRIC OXIDE SYNTHASE, ENDOTHELIAL MICROSOMAL EPOXIDE HYDROLASE enos [E298D exon 7]; [T-786C]; [T-808C] rs1799983 163729 Coronary heart disease (blood pressure) EPHX exon3 [Y113H], exon 4 [A15443G], exon8 [N357] rs1051740, rs2234922, rs1051741 132810 detoxification of exogenous chemicals such as polycyclic aromatic hydrocarbons 7

ESTROGEN RECEPTOR 2 ESTROGEN RECEPTOR 2 Name Polymorphism rs number OMIM Function ER [Pvu] and [Xba] ER_TA-repeat rs2234693, rs9340799 133430 Estrogen metabolism, non hereditary mamma carcinoma, osteoporosis No point mutation 601663 Estrogen metabolism, osteoporosis FATTY ACID-BINDING PROTEIN 2; FABP2 [A54T] rs1799883 134640 Lipid metabolism, elevated triglycerides, type 2 diabetes FACTOR II Factor II [G20210A] rs1799963 176930 coagulation, elevated risk for thrombosis FACTOR V Factor V [G1691A] rs6025 612309 coagulation, elevated risk for thrombosis FACTOR VII, Factor VII [R353Q] rs6046 227500 coagulation, reduced risk for CAD and for thrombosis FACTOR XIII Fc FRAGMENT OF IgE Factor XIII [VAL34LEU] 134570 FCER1A rs2427837, rs2251746 147140 IgE level coagulation, mutation is protective for venous thrombosis FAT MASS AND OBESITY FTO rs9939609 610966 High BMI and common obesity FIBRINOGEN FGB (G-455A) rs1800790 134830 Coagulation, risk thrombosis FIBROBLAST GROWTH FACTOR RECEPTOR 2 FGFR2 rs2981582 176943 Breast cancer FK506 binding protein 5 FKBP5 (IVS2 C>T) rs1360780 602623 Serotonine metabolism, pharmacogenomics SSRI GHRELIN GHRL [L72M] rs696217 605353 Adipositas GAP JUNCTION PROTEIN, ALPHA-4 (Connexin) GJA4 [P319S] rs1764391 121012 Risk atherosclerosis GNAS COMPLEX LOCUS GNAS rs7121 139320 Prostate cancer treatment response GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3 GNB3 [C825T] rs5443 139130 Lipid metabolism, Hypertonia, coronary heart disease, adipositas GLUTATHIONE PEROXIDASE GPX [P198L] rs1050450 138320 Oxidative stress GLUTATHIONE S-TRANSFERASE, MU-1 GSTM1 No SNP 138350 PhaseII detoxification, xenobiotics GLUTATHIONE S-TRANSFERASE, MU-3 GSTM3 rs7483 138390 Alzheimer disease GLUTATHIONE S-TRANSFERASE, PI GSTP1 rs1695 134660 PhaseII detoxification, xenobiotics No point GLUTATHIONE S-TRANSFERASE, THETA-1 GSTT1 mutation 600436 PhaseII detoxification, xenobiotics HEMOCHROMATOSIS HFE [C282Y] rs1800562 235200 Iron overload 8

HEMOCHROMATOSIS HFE [H63D] rs1799945 235200 Iron overload HEMOCHROMATOSIS HFE [S65C] rs1800730 235200 Iron overload HYDROXYTRYPTAMINE RECEPTOR 2A HTR2A (A-1439G) rs6311 182135 Depression, Serotonin metabolism MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B HLA B27 no point mutation 142830 spondylitis 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE HMGCR [C-911A] rs3761740 142910 Cholesterol metabolism, protein is target of statines, a genotype is correlated to an elevated risk of CHD HISTAMINE N-METHYLTRANSFERASE HNMT [C314T] atg rs1801105 605238 Histamine intolerance PLATELET GLYCOPROTEIN IIIa HPA-GP3 T12548C rs988684 173470 Aggregation of thrombocytes 17-@BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 [S312] rs8191245 109685 Non hereditary mamma carcinoma HEAT-SHOCK 70-KD PROTEIN 1A HSPA1A rs1043618, s1061581, rs2227956 140550 Risk cardiovascular disease HYPOTHETICAL PROTEIN LOC643714 TNRC9 rs3803662 611416 Breast cancer INTERLEUKIN 1-ALPHA Il-1 A [T-889, exon1] rs1800587 147760 Inflammation, parodontosis INTERLEUKIN 10 IL-10 [G-1082A] rs1800896 124092 Inflammation, parodontosis, Alzheimer disease INTERLEUKIN 1-BETA; IL-1B [C3945T] rs1143634 147720 Inflammation, parodontosis INTERLEUKIN 1-BETA IL-1B [C-511T] rs16944 147720 Inflammation, parodontosis INTERLEUKIN 1 RECEPTOR ANTAGONIST IL1RN [T2018C] s419598 147679 Inflammation, parodontosis INTERLEUKIN 4 IL-4 [C-33T] rs2070874 147780 Inflammation, protective effect autoimmune thyroiditis, Chronic Inflammatory Arthropathies, predisposition asthma INTERLEUKIN 4 RECEPTOR IL4r [Q551R] rs1801275 147781 Inflammation, Chronic Inflammatory Arthropathies INTERLEUKIN 6 IL6 [G-174C] rs1800795 147620 Inflammation, osteoporosis INTERLEUKIN 23 RECEPTOR IL-23R [R381Q] rs11209026 607562 Protective Crohn s disease, good and bad spinal cord donors INTERLEUKIN 28 IL28B rs12979860 607402 Response to treatment in HCV patient INSULIN-INDUCED GENE 2 INSIG2 (C/G) intron rs7566605 608660 adipositas 9

10 Name Polymorphism rs number OMIM Function INSULIN RECEPTOR SUBSTRATE 1 IRS-1 [G971R] rs1801278 147545 JANUS KINASE 2; JAK2 [V617F] Not develop Not develop Insulin metabolism, insulin resitance, type II diabetes (it is recommended to do the test in combination with CTLA4 and PPARgamma) Leukemia; polycythaemia vera, idiopathic myelofibrosis KINESIN FAMILY MEMBER 6 KIF6 [WT719R] rs20455 CHD and response to statine KLOTHO KLOTHO [G-395A] rs1207568 604824 Osteoporosis, Alzheimer disease (early onset) LACTASE PHLORIZINE HYDROLASE LCTA [C-13910T] rs4988235 603202 Lactose malabsorption LEPTINE LEP(A-2548G) rs7799039 164160 Adipositas LEPTIN RECEPTOR LEPR [Q223R] rs1137101 601007 Adipositas rs17851178 =rs688, rs17242555 =rs5925 606945 LDL-rec. [Hinc2 (ex12) LOW DENSITY LIPOPROTEIN RECEPTOR + Ava2(ex13)] HEPATIC LIPASE LIPC [-514C/T] rs1800588 151670 ncreased HDL level LIPOPROTEIN LIPASE LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5 MOUSE DOUBLE MINUTE 2 HOMOLOG; LPL [D9N] & [N291S] & [S474X] LRP5 [V667M] &[A1330V] rs1801177, rs268, rs328 609708 Lipid metabolism, Reduced receptor activity for cholesterol Lipid metabolism, the first two SNP=> elevated risk for CAD, the third SNP => diminished risk for CAD rs4988321, rs3736228 603506 Risk vertebral fractures, reduced BMD MDM2 Intron [G309T] rs2279744 164785 Apoptosis, cell cycle MULTIDRUG RESISTANCE 1 MDR1 [C3435T] rs1045642 171050 Drug resitance, chemotherapy MATRIX METALLOPROTEINASE 3; MMP3(5A/6A) rs3025058 185250 Cardiovascular disease, hypertension 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR [A1298C] rs1801131 607093 homocysteine remethylation to methionine. 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR [C677T] rs1801133 607093 homocysteine remethylation to methionine. MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN MTP [G-439T] 157147 MICROTUBULE ASSOCIATED PROTEIN TAU MAPT rs1800547 157140 Parkinson disease METHIONINE SYNTHASE MTR [G919D] rs1805087 156570 Folat metabolism Lipid metabolism, associated with elevated triglycerides

METHIONINE SYNTHASE REDUCTASE MTRR [A66G]; [M22I] rs1801394 602568 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; N-ACETYLTRANSFERASE 1 N-ACETYLTRANSFERASE 2 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2 SMAD / 18q21 NAT1*3 NAT1*4 NAT1*10 NAT2*5A (C481T), *6A (G590A), *7A/B (G857A) NOD2 [Ex 8 2722 G/C] & NOD2 [Ex 4 2104 C/T] & NOD2 [ Ex 11 3020 insc] Folat metabolism, association with homocstein levels in plasma rs12953717, rs4939827, rs4464148 601366 Risk colo rectal cancer reference SNP rs8190861, rs15561 rs4986783, rs4986782 rs4987076 108345 rs1799929, rs1799930, rs1799931 612182 2066844, rs2066845 no point mutation 605956 Crohns disease Phase II detoxification, association with colon or bladder carcinoma Phase II detoxification, association with colon or bladder carcinoma NATRIURETIC PEPTIDE PRECURSOR B; NPPB rs198389 rs198389 600295 Risk cardiovascular disease, NATRIURETIC PEPTIDE PRECURSOR A NPPA rs1049872 108780 Risk cardiovascular disease, NEUROPEPTIDE Y NPY [L7P] rs16139 162640 energy homeostasis, associated with elevated OSTEOPROTEGERIN OPG [T 245 C] rs3134069 602643 Regulation of bone resorption, osteopr p53 exon4 [C429G] TRANSFORMATION-RELATED PROTEIN 53 P72R rs1042522 191170 Anti oncogene PLASMINOGEN ACTIVATOR INHIBITOR 1 PAI [4G/5G] rs1799899 613329 elevated risk for thrombosis, increased risk for CAD PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9 PCSK9[R46L] rs11591147 607786 Hypocholesterolemia, increased response to statin therapy 11

12 Name Polymorphism rs number OMIM Function PROGESTERONE RECEPTOR PGR [331G/A] rs10895068 607311 Elevated risk ovarial cancer, endometriosis, endometrial cancer PERILIPIN PLIN [1482G>A] rs891460 170290 Lipid metabolism. Adipositas, CVD PERILIPIN PLIN [V373V] rs2304796 170290 Lipid metabolism. Adipositas, CVD PARAOXONASE 1 PON1 [Q192 R] rs662 168820 atherosclerosis and heart disease PARAOXONASE 1 PON1 [M55L] rs854560 168820 atherosclerosis and heart disease PARAOXONASE 2 PON2 rs12026 602447 Diabete PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR- GAMMA PPAR gamma [P12A] Rs1801282 601487 Metabolic syndrome, type II diabetes PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR- ALPHA PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PPAR alpha [IVS7-(G2498C)] rs4253778 170998 PTPRS rs886936, rs17130, rs8100586 601576 Crohn s disease Metabolic syndrome, type II diabetes, glucose sensitivity RANK(Intron6), RANK rs12458117, - RECEPTOR ACTIVATOR OF NF-KAPPA-B; Exon6 [A192V], rs9594782 603499 osteoporosis - RECEPTOR ACTIVATOR OF NF-KAPPA-B LIGAND RANK L (Intron1) 602642 osteoporosis rs1447295 611100 5 SNPs rs16901979 611100 rs6983267 611100 Prostate Cancer (5 SNPs) published in NEJM rs1859262 176807 rs4430796 176807 PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 2 Serpine A3 [G-51T] rs18840082 Elevated risk for aneurysm GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE QPCT rs3770748 607065 Rsik Alzheimer disease, Tryptophan metabolism, relation to bone mineral density RENIN REN [T5795G] rs5707 179820 Hypetension, cardiosvascular disease SELECTIN E SELE [S149R] rs5361 131210 Susceptibility nephropathy SELEPTIN P SELP [V640L] rs6133 173610 Susceptibility nephropathy SH2B ADAPTOR PROTEIN SH2B [A484T] rs7498665 608937 Obesity and type2 diabetes

SEX HORMONE-BINDING GLOBULIN; SHBG [D356N] rs6259 182205 predisposition prostata cancer SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1 SLCO1B1[V174A] rs4149056 604843 Risk cardio mypathie SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONINE), MEMBER SLC6A4 (G/C-intron1) rs16965628 182138 Obsessive-compulsive disorder, serotine metabolism SUPEROXIDE DISMUTASE 1 SOD1 [A5V], SOD1 - EX4 [G94A] 147450 Oxidative stress SUPEROXIDE DISMUTASE 2; SOD2 [A16V] rs1799725 147460 Oxidative stress STEROID 5-ALPHA-REDUCTASE 2 SRD5a [R227Q], [V89L], [A49T] rs9332964, rs523349, rs9282858 607306 Risk prostata carcinoma STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2 SREBP2 [G1748C] rs4822063 600481 Cholesterol metabolism, predisposition hypercholesterolemia SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING, Detoxificationof catechol-estrogenes, risk non MEMBER 1 SULT1a1*2 rs3760091 171150 hereditary mamma carcinoma SYNUCLEIN ALPHA SNCA rs356219 163890 Parkinson disease TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I TGFBR1 rs334348 190181 Risk colorectal cancer TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I TGFBR1 rs334349 190181 Risk colorectal cancer TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I TGFBR1 rs1590 190181 Risk colorectal cancer TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I TGFBR1 rs7871490 190181 Risk colorectal cancer Diabetic neuropathy, Heart disease, premature TOLL-LIKE RECEPTOR 4 TLR4 (Thr399Ile) rs4986791 603030 birth, bacterial vaginosis, septic shock TRANSCRIPTION FACTOR 7-LIKE 2; TCF 4, = TCF7L2 rs12255372 602272 Type 2 diabetes TRANSFORMING GROWTH FACTOR, BETA TGF beta [exon1, codon10] rs1982073 =rs1800470 190180 Inflammation 13

TUMOR NECROSIS FACTOR alpha TNF alpha [G-238A] rs361525 191160 TUMOR NECROSIS FACTOR alpha TNF alpha [G-308A] rs1800629 191160 Inflammation, various autoimmune disease, atopy and asthma, response to pathogens like hepatitits B and C virus and chlamydia trachomatis Inflammation, various autoimmune disease, atopy and asthma, response to pathogens like hepatitits B and C virus and chlamydia trachomatis TRYPTOPHAN HYDROXYLASE 1; TPH [A218C],TPH [A779C]intron 7, TPH1 intron8 (A/G) rs1800532, rs7933505 191060 Psychiatric genetics, suicidial behavior, other psychiatric disorders TRYPTOPHAN HYDROXYLASE 2 TPH2 rs45706025 607478 Psychiatric genetics, maniac depression THIOPURINE S-METHYLTRANSFERASE TPMT *2, *3B, *3C rs1800462, rs1800460, rs1142395 187680 Pharmacogenetics, anticancer-drugs UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE UGT1A1 [TA6/TA7] rs34815109 191740 A1 Phase II glucuronidation, VITAMIN D RECEPTOR VDR [BsmI] rs154410 601769 Osteoporosis VITAMIN D RECEPTOR VDR [Taq I] rs731236 601769 Osteoporosis VITAMIN D RECEPTOR VDR Fok1 [M1T] rs1072581 601769 Osteoporosis VASCULAR ENDOTHELIAL GROWTH FACTOR VEGF [C-2578A] rs699947 192240 Increase of permeability of blood vessels VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1 VKORC1 [-G1639A] rs7878363 608547 Coagulation, adjust dose before treatrment 14