Table 4.
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 | [288–290], [this work], [147] |
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 | [292], [this work], [149] |
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 | [294], [this work], [151, 152] |
TPI1 | rs1800202 | gcgctctata |
t
g |
aagtgggcag |
1
4 |
↓ | 17 | 10-6 | B | hemolytic anemia, neuromuscular diseases | [295, 296] |
(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] |
See “Note” under Table 1