Gene | dbSNP [6] rel. 147 or see [Ref] | 5′ flank | wt mut | 3′ flank | KD, nM | Known diseases (SNP markers) or hypothetical disease (candidate SNP markers) | [Ref] or [this work] | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
wt mut | Δ | Z | α | ρ | |||||||
NOS2 | -51t→c [288] | gtataaatac | t c | tcttggctgc | 2 1 | ↑ | 3 | 10-2 | C | resistance to malaria and epilepsy (hypothetically) higher risk of gestational diabetes mellitus | |
STAR | rs16887226 | cagccttcag | c t | gggggacatt | 10 10 | = | 0 | 1 | E | hypertensive diabetic patients, (EMSA: unknown TF-binding site lost rather than TATA box) | [291] |
rs544850971 | tcagcggggg | a g | catttaagac | 10 12 | ↓ | 5 | 10-2 | C | (hypothetically) lower risk of the same disease and congenital adrenal hyperplasia | [this work], [148] | |
APOA1 | 35a→c [292] | tgcagacata | a c | ataggccctg | 3 4 | ↓ | 5 | 10-6 | A | fatty liver (hypothetically) high risk of polycystic ovary syndrome in young women | |
CETP | DEL-51(18 bp) [293] | cgtgggggct | 18bp - | gggctccagg | 4 7 | ↓ | 7 | 10-6 | A | hyperalphalipoproteinemia reducing risk of atherosclerosis | [293] |
rs17231520 | ggggctgggc | g a | gacatacata | 4 2 | ↑ | 10 | 10-6 | A | (hypothetically) biomarker of late pregnancy when plasma triglyceride, high-density lipoprotein, and cholesterol concentrations are significantly increased | [this work], [150] | |
rs569033466 | atacatatac | g a | ggctccaggc | 4 3 | ↑ | 4 | 10-3 | B | |||
rs757176551 | catatacggg | c g | tccaggctga | 4 2 | ↑ | 10 | 10-6 | A | |||
SOD1 | rs7277748 | ggtctggcct | a g | taaagtagtc | 2 7 | ↓ | 17 | 10-6 | A | amyotrophic lateral sclerosis, (hypothetically), asthenospermia, lower female fertility via progesterone deficiency | |
TPI1 | rs1800202 | gcgctctata | t g | aagtgggcag | 1 4 | ↓ | 17 | 10-6 | B | hemolytic anemia, neuromuscular diseases | |
(hypothtically) higher risk of asthenospermia | [this work], [153] | ||||||||||
rs781835924 | cgcggcgctc | t c | atataagtgg | 1 2 | ↓ | 10 | 10-6 | B | |||
GJA5 | rs10465885 | caactaagat | g a | tattaaacac | 3 3 | = | 1 | 1 | E | arrhythmia, cardiovascular events (LUC: TF-binding site damaged, not TATA box) | [297] |
(hypothetically) the same disease and higher risk of heart morphogenesis disorders | [this work], [154] | ||||||||||
rs587745372 | ggcgacagat | a t | cgattaaaaa | 6 7 | ↓ | 3 | 10-3 | B | |||
rs35594137 | gaggagggaa | g a | gcgacagata | 6 6 | = | 0 | 1 | E | |||
arrhythmia, cardiovascular events (LUC: TF-binding site damaged, not TATA box) | [298] |