Listado unitario de SNPs

Transcription

1 2010 Listado unitario de SNPs EUGENOMIC 05/10/2010

2 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

3 ALPHA 1-ANTITRYPSIN AAT [PiM, PiS] rs Hereditary AT deficiency, Emphysema, COPD, ALPHA 1-ANTITRYPSIN AAT [PiM, PiZ] rs Hepatitis ADDUCIN 1 ADD1 [G460W] rs Hypertension, salt sensitivity ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN ALOX5AP rs & rs Myocardial infarction, ischemic stroke ANDROGENE RECEPTOR AR (E213E] rs Baldness ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1 ABC1A1 [R219K] rs AMILORIDE-BINDING PROTEIN1 ABP1 [F332S] rs AMILORIDE-BINDING PROTEIN 1 ABP1 [H645D] rs AMILORIDE-BINDING PROTEIN 1 ABP1 [T16M] rs cholesterol efflux pump in the cellular lipid removal pathway, for example role in hypercholesterinemia Histamine intolerance ANGIOTENSIN I-CONVERTING ENZYME ACE [I/D] rs 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] rs Fast twitch versus slow twitch muscle fibers ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2 ADH2 [R370C] rs ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE; ADH2 ADH2 [R47H] rs BALDNESS BETA-1-ADRENERGIC RECEPTOR Chr20 rs , rs913063, rs ADR B1 [R389G]; [G1251C] rs Ethanol metabolism Risk alopecia, recommended to do the analysis together with AR [E213E] Lipid metabolism, Receptor for epinephrine, blood pressure, ADR B2 [R16G]; rs , BETA-2-ADRENERGIC RECEPTOR [Q27E] rs Lipid metabolism, Metabolic syndrom BETA-3-ADRENERGIC RECEPTOR ADR B3 [W64R] rs Lipid metabolism, metabolic syndrom ANGIOTENSIN I AGT [M235T] rs Elevated risk CAD, CHD, better benefit of an ACE therapy depending on the existing genotype 3

4 ANGIOTENSIN RECEPTOR 1 AGTR1 [C907T] rs hypertension, MI ANGIOTENSIN RECEPTOR 1 AGTR1 (A1166C) rs hypertension, MI ANGIOTENSIN II RECEPTOR, TYPE 2 AGTR2 [ex3-3 UTR] rs RAAS, hypertension, elevated risk myocardial infarctus ATG16 autophagy related 16-like 1 ATG[16L1] rs Crohn's disease DELTA-AMINOLEVULINATE DEHYDRATASE ALAD [K68N] rs Metabolism heavy metals (for example mercury). ALDOLASE B Aldo B [A149P]; rs ALDOLASE B Aldo B [A174P] rs Hereditary fructose intolerance ALDOLASE B AldoB [N344K] rs ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1 APM1 [G276T] rs 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] rs cardiovascular diesease AGE-RELATED MACULOPATHY SUCEPTIBILITY PROTEIN ARMS2 [A69S] rs AMD APOLIPOPROTEIN A-I APOA1 (MspI) rs Lipid metabolism (elevated HDL) APOLIPOPROTEIN A-V APOA5 [T-1131C] rs 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 rs , rs Lipidmetabolism (elevated LDL) rs , rs , rs Lipidmetabolism, (elevated triglycerides) rs429358, rs no point mutation Lipidmetabolism (E4 = marker for Alzheimer disease, late onset, (elevated cholesterol, LDL, ApoB) Most important bacterial markers for parodontosis 4

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

6 CATECHOL-O-METHYLTRANSFERASE COMT [V-158M] rs Estrogen metabolism, non hereditary mamma carcinoma CHAPERONIN 10 CPN10 [G4852A] rs Metabolic syndrome, type II diabetes COPORPHYRINOGEN OXIDASE 4 CPOX-4 [N272H] rs Heavy metal metabolism (mercury) COPORPHYRINOGEN OXIDASE 5 CPOX-5 [E330E] rs Heavy metal metabolism (mercury) C-REACTIVE PROTEIN, PENTRAXIN-RELATED CRP [C-717T] rs Inflammation, atherosclerosis, type II diabetes CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4 CTL A 4 [A49G] [Thr17Ala] rs predisposition type1 diabetes CYTOCHROME b-245, ALPHA POLYPEPTIDE CYBA [Y72H] [C242T] rs Cerebral ischemia CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1 CYP11B1 [Ala386Val] rs Non hereditary mamma carcinoma CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1 CYP17 rs Steroid metabolism, non hereditary mamma carcinoma CYTOCHROME P450, FAMILY 19, SUBFAMILY A, Steroid metabolism, non hereditary mamma POLYPEPTIDE 1 CYP19A1 [3 UTR T/C] rs carcinoma CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 CYP1A1*2A rs Phase I detoxification, Drug metabolism CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 CYP1A2*C rs Phase I detoxification, Drug metabolism CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 CYP1A2*F rs Phase I detoxification, Drug metabolism CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6 CYP2A6*2,*3,*4 rs Phase I detoxification, Drug metabolism Estrogen metabolism, HRT, non hereditary mamma CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 CYP1B1*3 rs carcinoma CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6 CYP2B6*4 rs 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 rs rs , rs , rs Drug metabolism rs , rs Phase I detoxification, Drug metabolism rs , rs Phase I detoxification, Drug metabolism 6

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

8 ESTROGEN RECEPTOR 2 ESTROGEN RECEPTOR 2 Name Polymorphism rs number OMIM Function ER [Pvu] and [Xba] ER_TA-repeat rs , rs Estrogen metabolism, non hereditary mamma carcinoma, osteoporosis No point mutation Estrogen metabolism, osteoporosis FATTY ACID-BINDING PROTEIN 2; FABP2 [A54T] rs Lipid metabolism, elevated triglycerides, type 2 diabetes FACTOR II Factor II [G20210A] rs coagulation, elevated risk for thrombosis FACTOR V Factor V [G1691A] rs coagulation, elevated risk for thrombosis FACTOR VII, Factor VII [R353Q] rs coagulation, reduced risk for CAD and for thrombosis FACTOR XIII Fc FRAGMENT OF IgE Factor XIII [VAL34LEU] FCER1A rs , rs IgE level coagulation, mutation is protective for venous thrombosis FAT MASS AND OBESITY FTO rs High BMI and common obesity FIBRINOGEN FGB (G-455A) rs Coagulation, risk thrombosis FIBROBLAST GROWTH FACTOR RECEPTOR 2 FGFR2 rs Breast cancer FK506 binding protein 5 FKBP5 (IVS2 C>T) rs Serotonine metabolism, pharmacogenomics SSRI GHRELIN GHRL [L72M] rs Adipositas GAP JUNCTION PROTEIN, ALPHA-4 (Connexin) GJA4 [P319S] rs Risk atherosclerosis GNAS COMPLEX LOCUS GNAS rs Prostate cancer treatment response GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3 GNB3 [C825T] rs Lipid metabolism, Hypertonia, coronary heart disease, adipositas GLUTATHIONE PEROXIDASE GPX [P198L] rs Oxidative stress GLUTATHIONE S-TRANSFERASE, MU-1 GSTM1 No SNP PhaseII detoxification, xenobiotics GLUTATHIONE S-TRANSFERASE, MU-3 GSTM3 rs Alzheimer disease GLUTATHIONE S-TRANSFERASE, PI GSTP1 rs PhaseII detoxification, xenobiotics No point GLUTATHIONE S-TRANSFERASE, THETA-1 GSTT1 mutation PhaseII detoxification, xenobiotics HEMOCHROMATOSIS HFE [C282Y] rs Iron overload 8

9 HEMOCHROMATOSIS HFE [H63D] rs Iron overload HEMOCHROMATOSIS HFE [S65C] rs Iron overload HYDROXYTRYPTAMINE RECEPTOR 2A HTR2A (A-1439G) rs Depression, Serotonin metabolism MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B HLA B27 no point mutation spondylitis 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE HMGCR [C-911A] rs Cholesterol metabolism, protein is target of statines, a genotype is correlated to an elevated risk of CHD HISTAMINE N-METHYLTRANSFERASE HNMT [C314T] atg rs Histamine intolerance PLATELET GLYCOPROTEIN IIIa HPA-GP3 T12548C rs Aggregation of thrombocytes 17-@BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 [S312] rs Non hereditary mamma carcinoma HEAT-SHOCK 70-KD PROTEIN 1A HSPA1A rs , s , rs Risk cardiovascular disease HYPOTHETICAL PROTEIN LOC TNRC9 rs Breast cancer INTERLEUKIN 1-ALPHA Il-1 A [T-889, exon1] rs Inflammation, parodontosis INTERLEUKIN 10 IL-10 [G-1082A] rs Inflammation, parodontosis, Alzheimer disease INTERLEUKIN 1-BETA; IL-1B [C3945T] rs Inflammation, parodontosis INTERLEUKIN 1-BETA IL-1B [C-511T] rs Inflammation, parodontosis INTERLEUKIN 1 RECEPTOR ANTAGONIST IL1RN [T2018C] s Inflammation, parodontosis INTERLEUKIN 4 IL-4 [C-33T] rs Inflammation, protective effect autoimmune thyroiditis, Chronic Inflammatory Arthropathies, predisposition asthma INTERLEUKIN 4 RECEPTOR IL4r [Q551R] rs Inflammation, Chronic Inflammatory Arthropathies INTERLEUKIN 6 IL6 [G-174C] rs Inflammation, osteoporosis INTERLEUKIN 23 RECEPTOR IL-23R [R381Q] rs Protective Crohn s disease, good and bad spinal cord donors INTERLEUKIN 28 IL28B rs Response to treatment in HCV patient INSULIN-INDUCED GENE 2 INSIG2 (C/G) intron rs adipositas 9

10 10 Name Polymorphism rs number OMIM Function INSULIN RECEPTOR SUBSTRATE 1 IRS-1 [G971R] rs 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] rs Osteoporosis, Alzheimer disease (early onset) LACTASE PHLORIZINE HYDROLASE LCTA [C-13910T] rs Lactose malabsorption LEPTINE LEP(A-2548G) rs Adipositas LEPTIN RECEPTOR LEPR [Q223R] rs Adipositas rs =rs688, rs =rs LDL-rec. [Hinc2 (ex12) LOW DENSITY LIPOPROTEIN RECEPTOR + Ava2(ex13)] HEPATIC LIPASE LIPC [-514C/T] rs ncreased HDL level LIPOPROTEIN LIPASE LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5 MOUSE DOUBLE MINUTE 2 HOMOLOG; LPL [D9N] & [N291S] & [S474X] LRP5 [V667M] &[A1330V] rs , rs268, rs Lipid metabolism, Reduced receptor activity for cholesterol Lipid metabolism, the first two SNP=> elevated risk for CAD, the third SNP => diminished risk for CAD rs , rs Risk vertebral fractures, reduced BMD MDM2 Intron [G309T] rs Apoptosis, cell cycle MULTIDRUG RESISTANCE 1 MDR1 [C3435T] rs Drug resitance, chemotherapy MATRIX METALLOPROTEINASE 3; MMP3(5A/6A) rs Cardiovascular disease, hypertension 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR [A1298C] rs homocysteine remethylation to methionine. 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR [C677T] rs homocysteine remethylation to methionine. MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN MTP [G-439T] MICROTUBULE ASSOCIATED PROTEIN TAU MAPT rs Parkinson disease METHIONINE SYNTHASE MTR [G919D] rs Folat metabolism Lipid metabolism, associated with elevated triglycerides

11 METHIONINE SYNTHASE REDUCTASE MTRR [A66G]; [M22I] rs 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 G/C] & NOD2 [Ex C/T] & NOD2 [ Ex insc] Folat metabolism, association with homocstein levels in plasma rs , rs , rs Risk colo rectal cancer reference SNP rs , rs15561 rs , rs rs rs , rs , rs , rs no point mutation 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 rs rs Risk cardiovascular disease, NATRIURETIC PEPTIDE PRECURSOR A NPPA rs Risk cardiovascular disease, NEUROPEPTIDE Y NPY [L7P] rs energy homeostasis, associated with elevated OSTEOPROTEGERIN OPG [T 245 C] rs Regulation of bone resorption, osteopr p53 exon4 [C429G] TRANSFORMATION-RELATED PROTEIN 53 P72R rs Anti oncogene PLASMINOGEN ACTIVATOR INHIBITOR 1 PAI [4G/5G] rs elevated risk for thrombosis, increased risk for CAD PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9 PCSK9[R46L] rs Hypocholesterolemia, increased response to statin therapy 11

12 12 Name Polymorphism rs number OMIM Function PROGESTERONE RECEPTOR PGR [331G/A] rs Elevated risk ovarial cancer, endometriosis, endometrial cancer PERILIPIN PLIN [1482G>A] rs Lipid metabolism. Adipositas, CVD PERILIPIN PLIN [V373V] rs Lipid metabolism. Adipositas, CVD PARAOXONASE 1 PON1 [Q192 R] rs atherosclerosis and heart disease PARAOXONASE 1 PON1 [M55L] rs atherosclerosis and heart disease PARAOXONASE 2 PON2 rs Diabete PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR- GAMMA PPAR gamma [P12A] Rs Metabolic syndrome, type II diabetes PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR- ALPHA PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PPAR alpha [IVS7-(G2498C)] rs PTPRS rs886936, rs17130, rs Crohn s disease Metabolic syndrome, type II diabetes, glucose sensitivity RANK(Intron6), RANK rs , - RECEPTOR ACTIVATOR OF NF-KAPPA-B; Exon6 [A192V], rs osteoporosis - RECEPTOR ACTIVATOR OF NF-KAPPA-B LIGAND RANK L (Intron1) osteoporosis rs SNPs rs rs Prostate Cancer (5 SNPs) published in NEJM rs rs PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 2 Serpine A3 [G-51T] rs Elevated risk for aneurysm GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE QPCT rs Rsik Alzheimer disease, Tryptophan metabolism, relation to bone mineral density RENIN REN [T5795G] rs Hypetension, cardiosvascular disease SELECTIN E SELE [S149R] rs Susceptibility nephropathy SELEPTIN P SELP [V640L] rs Susceptibility nephropathy SH2B ADAPTOR PROTEIN SH2B [A484T] rs Obesity and type2 diabetes

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

14 TUMOR NECROSIS FACTOR alpha TNF alpha [G-238A] rs TUMOR NECROSIS FACTOR alpha TNF alpha [G-308A] rs 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) rs , rs Psychiatric genetics, suicidial behavior, other psychiatric disorders TRYPTOPHAN HYDROXYLASE 2 TPH2 rs Psychiatric genetics, maniac depression THIOPURINE S-METHYLTRANSFERASE TPMT *2, *3B, *3C rs , rs , rs Pharmacogenetics, anticancer-drugs UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE UGT1A1 [TA6/TA7] rs A1 Phase II glucuronidation, VITAMIN D RECEPTOR VDR [BsmI] rs Osteoporosis VITAMIN D RECEPTOR VDR [Taq I] rs Osteoporosis VITAMIN D RECEPTOR VDR Fok1 [M1T] rs Osteoporosis VASCULAR ENDOTHELIAL GROWTH FACTOR VEGF [C-2578A] rs Increase of permeability of blood vessels VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1 VKORC1 [-G1639A] rs Coagulation, adjust dose before treatrment 14