Gene RNA dbSNP [4 ] SNP 5′-flank hg19 min 3′-flank min versus hg19 Known [reference] or hypothetical [this work] diseases (observations) [Reference], [this work] HBB #2 rs397509430 del-29t gggctgggca t atacaacagt 29 versus 5 ↓ 34 10−7
Malaria resistance and β -thalassemia
[85 –92 ] rs33980857 −29t→a,g,c gggctgggca t a,g,c atacaacagt 21 versus 5 ↓ 27 10−7 rs34598529 −28a→g ggctgggcat a g aaagtcaggg 18 versus 5 ↓ 24 10−7 rs33931746 −27a→g,c gctgggcata a g,c aagtcagggc 11 versus 5 ↓ 14 10−7 rs33981098 −30a→g,c agggctgggc a g,c taaaagtcag 9 versus 5 ↓ 10 10−7 rs34500389 −31c→a,t,g cagggctggg c a,t,g ataaaagtca 6 versus 5 ↓ 3 10−2 ND, see [93 ] −27a→t gctgggcata a t aagtcagggc 3 versus 5 ↑ 8 10−2 Health, well-known so-called “silent SNP” [93 , 94 ] rs63750953 del -25aa ctgggcataa aa gtcagggcag 8 versus 5 ↓ 9 10 (Hypothetically) Malaria resistance, β -thalassemia
[This work], [95 ] rs281864525 −25a→c tgggcataaa a c gtcagggcag 7 versus 5 ↓ 7 10 HBD #3 rs35518301 −31a→g caggaccagc a g taaaaggcag 8 versus 4 ↓ 11 10−7 Malaria resistance and δ -thalassemia [9 , 96 ] rs34166473 −30t→c aggaccagca t c aaaaggcagg 8 versus 4 ↓ 18 10 (Hypothetically) Malaria resistance, δ -thalassemia [This work], [95 ] DARC #3 rs2814778 −26t→c ttggctctta t c cttggaagca 12 versus 10 ↓ 4 10−3 Low white-blood-cell count and resistance to malaria [9 , 97 ] rs55878706 −27a→t(c) cttggctctt a t(c) tcttggaagc 12 versus 10 ↓ 4 10 (Hypothetically) Low white-blood-cell count and malaria resistance [This work] CYP2A6 #3 rs28399433 −34t→g tcaggcagta t g aaaggcaaac 9 versus 2 ↓ 21 10−7 Lower risk of lung cancer in smokers g ” has 50% of “−34t ” [98 , 99 ] CRYGEP ( 5) #1 rs55999272 −28t→c tcctgctata t c agccccgccg 5 versus 2 ↓ 11 10−7 For “−28t ” ancestral allele (norm), [100 ] MMP12 #1 rs2276109 −27a→g gatatcaact a g tgagtcactc 14 versus 11 ↓ 3 10−2 Low risk of chronic asthma, systemic sclerosis, and psoriasis [101 –103 ] rs572527200 −30a→g gatgatatca a g ctatgagtca 14 versus 11 ↓ 3 10 (Hypothetically) Low risk of asthma, systemic sclerosis, and psoriasis [This work] CETP #4 ND, see [104 ] del-54 cgtgggggct [18 bp] gggctccagg 7 versus 4 ↓ 7 10−7 Hyperalphalipoproteinemia reduces atherosclerosis risk [104 , 105 ] rs17231520 −68g→a ggggctgggc g a gacatacata 2 versus 4 ↑ 10 10 (Hypothetically) Higher risk of atherosclerosis-related autoimmune diseases
[This work], [105 ] rs569033466 −53g→a atacatatac g a ggctccaggc 3 versus 4 ↑ 4 10 CYP2B6 ( 4) #1 rs34223104 −28t→c gatgaaattt t c ataacagggt 10 versus 4 ↓ 15 10−7 Better bioactivation of anticancer prodrug cyclophosphamide [106 ] rs563558831 −26t→c tgaaatttta t c aacagggtgc 10 versus 4 ↓ 13 10 (Hypothetically) Better bioactivation of cyclophosphamide [This work] SOD1 #4 rs7277748 −32a→g ggtctggcct a g taaagtagtc 7 versus 2 ↓ 17 10−7 Familial amyotrophic lateral sclerosis [107 ] TPI1 #201 rs1800202 −24t→g gcgctctata t g aagtgggcag 4 versus 1 ↓ 17 10−7 Hemolytic anemia and neuromuscular diseases [108 , 109 ] ESR2 #1 rs35036378 −43t→g cctctcggtc t g ttaaaaggaa 8 versus 6 ↓ 5 10−3 ESR2-low pT1 tumor [110 , 111 ] HSD17B1 #2 rs201739205 −36a→c aggtgatatc a c agcccagagc 18 versus 13 ↓ 5 10−3 Breast cancer [112 ] MBL2 #1 rs72661131 −39t→c tctatttcta t c atagcctgca 4 versus 2 ↓ 12 10−7 Variable immunodeficiency, stroke, and preeclampsia [113 –115 ] rs562962093 −40a→g atctatttct a g tatagcctgc 5 versus 2 ↓ 15 10 (Hypothetically) Stroke, variable immunodeficiency, and preeclampsia
[This work] rs72661131 −35g→a tttctatata g a cctgcaccca 1 versus 2 ↑ 12 10 (Hypothetically) Risk of cardiovascular events in rheumatoid arthritis [This work], [119 ] ADH7 #3 rs17537595 −36t→c gctgctgtta t c atacaacaga 3 versus 1 ↓ 13 10−7 Esophageal cancer [116 ] rs372329931 −37a→g agctgctgtt a g tatacaacag 3 versus 1 ↓ 13 10 (Hypothetically) Esophageal cancer [This work] APOA1 #3 ND, see [117 ] −35a→c tgcagacata a c ataggccctg 4 versus 3 ↓ 5 10−3 Hematuria, fatty liver, obesity [117 ] F7 #1 ND, see [118 ] −33a→c ccttggaggc a c gagaactttg 62 versus 53 ↓ 3 10−2 Moderate bleeding tendency [118 ] rs367732974 −19g→a aactttgccc g a tcagtcccat 47 versus 53 ↑ 2 0.05 (Hypothetically) Risk of progression of colorectal cancer from a primary tumor to metastasis
[This work], [120 ] rs549591993 −13c→a gcccgtcagt c a ccatggggaa 25 versus 53 ↑ 13 10
