Gene RNA dbSNP [4 ] SNP 5′-flank hg19 min 3′-flank min versus hg19 Known [reference] or hypothetical [this work] diseases [Reference], [this work] FSHR #2 rs1394205 −29g→a gcaaatgcag g a aagaaatcag 7.3 versus 7.3 = 0 >0.05 No differences between proven fathers and infertile men [121 , 122 ] F9 #1 ND, see [123 ] −48g→c agctcagctt g c tactttggta 6.4 versus 6.4 = 0 >0.05 Leiden hemophilia B,
[123 ] ND, see [123 ] −42t→a gcttgtactt t a ggtacaacta 6.4 versus 6.4 = 0 >0.05 rs371045754 −32a→c tggtacaact a c atcgacctta 9.6 versus 6.4 ↓ 5 10 (Hypothetically) Leiden hemophilia B [This work] StAR #3 rs16887226 −33c→t cagccttcag c t gggggacatt 10.3 versus 10.3 = 0 >0.05 Hypertensive diabetic patients, [124 ] rs544850971 −22a→g tcagcggggg a g catttaagac 12.1 versus 10.3 ↓ 5 10 (Hypothetically) Congenital adrenal hyperplasia [This work], [125 ] GH1 #1 rs28399433 del-50g aggggccagg g — tataaaaagg 1.4 versus 1.5 = 1 >0.05 Short stature, [126 ] GSTM3 #4 rs1332018 −49c→a ccccttatgt c a gggtataaag 3.1 versus 3.6 = 1.9 >0.05 Risk of brain, lung, testicular, and renal cell carcinomas, c ” is 10% of “−49a ” [127 , 128 ] rs200209906 −36c→t,a gtataaagcc c t,a ctcccgctca 4.3 versus 3.6 ↓ 2.4 <0.05 (Hypothetically) Risk of brain, lung, testicular, and renal cell carcinomas [This work] UGT1A7 #1 rs7586110 −57t→g cttcttccac t g tactatatta 1.48 versus 1.54 = 1 >0.05 Oral cancer risk, g ” is 50% of “−57t ” [129 ] rs574890114 −55a→g tcttccactt a g ctatattata 2.02 versus 1.54 ↓ 4 10 (Hypothetically) Higher risk of oral cancer
[This work] rs542729995 −52a→g tccacttact a g tattatagga 2.28 versus 1.54 ↓ 5 10 GJA5 #1 rs10465885 −55g→a caactaagat g a tattaaacac 3.1 versus 3.4 = 1 >0.05 Arrhythmia, cardiovascular events g ” is 50% of “−55a ” [130 ] #2 rs35594137 −39g→a gaggagggaa g a gcgacagata 5.7 versus 5.7 = 0 >0.05 Arrhythmia, cardiovascular events a /76g” is 50% of “−39g/76a ” [131 ] rs587745372 −29a→t ggcgacagat a t cgattaaaaa 6.8 versus 5.7 ↓ 3 10 (Hypothetically) Arrhythmia, cardiovascular events [This work] THBD #1 rs13306848 −33g→a agggagggcc g a ggcacttata 2.3 versus 2.1 = 1 10−7 Thrombophlebitis risk a ” is 84% of “−33g ” [132 ] UGT1A1 #201 rs34983651 ins-55at ggtttttgcc — at atatatatat 0.65 versus 0.67 = 1 >0.05 Necessary but not sufficient in hyperbilirubinemia and jaundice [133 ] rs398048306 del-51(at)1;2 ggtttttgcc at(at) — atatatatat 0.71 versus 0.67 = 1 >0.05 Ethnic differences such as [12 ]
