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Table 1 Initial design of unique fingerprint assay using medically relevant polymorphisms

From: Development of a fingerprinting panel using medically relevant polymorphisms

Polymorphism Caucasian MAF Chromosome Gene Disease Associated with Polymorphism *
rs1137101 0.449 1p31 LEPR Obesity, Insulin Resistance, Non-Hodgkin's lymphoma
rs486907 0.408 1q25 RNASEL Prostate cancer
rs1042031 0.208 2p24 APOB Cardiovascular disease, Dislipidemia
rs231775 0.379 2q33 CTLA4 Multiple Sclerosis, Autoimmune Disease
rs5186 0.348 3q21 AGTR1 Metabolic syndrome, Aortic aneurism, Left-ventricular hypertrophy
rs6280 0.35 3q13.3 DRD3 Schizophrenia
rs1693482 0.477 4q21 ADH1C Alcohol dependence, Coronary heart disease
rs1799883 0.373 4q28 FABP2 Metabolic syndrome, Type 2 diabetes
rs4444903 0.392 4q25 EGF Cancer
rs4961 0.208 4p16.3 ADD1 Hypertension, Coronary artery disease
rs1042714 0.467 5q31 ADRB2 Obesity, COPD
rs351855 0.283 5q35.1 FGFR4 Cancer
rs5370 0.242 6p24 EDN1 Asthma, sleep apnea
rs6296 0.322 6q13 HTR1B substance abuse
rs2227983 0.25 7p12.3 EGFR Cancer
rs213950 0.492 7q31.2 CFTR Cystic fibrosis
rs7493 0.237 7q21.3 PON2 Myocardial infarction
rs328 0.273 8p22 LPL Left ventricular hypertrophy
rs2383206 0.475 9p21   Coronary artery disease
rs1800861 0.25 10q11.2 RET Hirschsprung disease, Thyroid cancer
rs1801253 0.283 10q24 ADRB1 Insulin Resistance
rs2227564 0.341 10q24 PLAU Alzheimer's disease, asthma
rs1799750 0.433 11q22.3 MMP1 Endometriosis, Osteolysis, Rheumatoid authritis
rs1063856 0.342 12p13.3 VWF Hypertension
rs6313 0.438 13q14 HTR2A Psychiatric disorders
rs2236225 0.396 14q24 MTHFD1 Neural tube defects
rs1800588 0.333 15q21 LIPC Coronary artery disease
rs243865 0.198 16q13 MMP2 Cancer
rs4673 0.342 16q24 CYBA Coronary artery disease
rs708272 0.478 16q21 CETP Coronary artery disease
rs1800012 0.188 17q21.3 COL1A1 Osteoporosis
rs4291 0.354 17q23 ACE Depression, Alzheimer's disease
rs4792311 0.331 17p11 ELAC2 Prostate cancer
rs16430 0.37 18p11.3 ENOSF1/TYMS Cancer
rs601338 0.391 19q13.3 FUT2 Infection susceptibility
rs688 0.45 19p13.2 LDLR Alzheimer's disease, Coronary artery disease
rs7121 0.458 20q13.3 GNAS Obesity, Cancer
rs234706 0.333 21q22 CBS Oral cleft defects
rs4680 0.483 22q11.21 COMT Schizophrenia, ADHD
AMG (del) 0.5 Xp22.3 AMG Sex Marker
  1. Polymorphisms (rs1693482, rs4444903, rs1800012) were excluded from the final assay because of validation failures.
  2. * Annotated bibliography of the publications used to determine medical relevance is in additional file 2.