Table 3.
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 | |||||||
LEP | rs201381696 | tcgggccgct |
a
g |
taagaggggc |
4
12 |
↓ | 17 | 10-6 | A | hypoleptinemia elevates risk of obesity | [54, 106] |
rs200487063 | tgatcgggcc |
g
a |
ctataagagg |
4
2 |
↑ | 6 | 10-6 | A | (hypothetically) hyperleptinemia elevates risk of hypertension in obesity | [this work], [107, 110] | |
rs34104384 | ccgctataag |
a
t |
ggggcgggca |
4
3 |
↑ | 4 | 10-2 | C | |||
GCG | rs183433761 | gctggagagt |
a
g |
tataaaagca |
0.9
1.6 |
↓ | 17 | 10-6 | A | resistance to obesity during a high-fat diet | [54] |
(hypothetically) hypoglucogonemia decreases pregnancy probability, serum insulin in pregnancy, and during late gestational period | [this work], [111, 112] | ||||||||||
rs757035851 | tatataaaag |
cag
- |
tgcgccttgg |
0.9
1.1 |
↓ | 3 | 10-3 | B | |||
GH1 | rs11568827 | aggggccagg |
g
- |
tataaaaagg |
1.5
1.4 |
= | 1 | 1 | E | short stature (EMSA: unknown TF-binding site lost, not TATA box) | [107] |
(hypothetically) higher risk of GH1 deficiency as clinical syndrome whose symptoms are increased central adiposity, atherogenesis, as well as cerebrovascular and cardiac morbidity (and mortality), and, also, decreased lean body mass, bone mineral density, quality of life | [this work], [113] | ||||||||||
rs796237787 | gaaggggcca |
g
- |
ggtataaaaa | ||||||||
rs768454929 | agggtataaa |
a
c |
agggcccaca |
1.5
2.6 |
↓ | 7 | 10-6 | A | |||
rs761695685 | gccagggtat |
a
g |
aaaagggccc |
1.5
5.8 |
↓ | 19 | 10-6 | A | |||
rs774326004 | ccagggtata |
a
t |
aaagggccca |
1.5
0.9 |
↑ | 7 | 10-6 | A | (hypothetically) higher risks of acromegaly | [this work], [114] | |
rs777003420 | aaggggccag |
g
t |
gtataaaaag |
1.5
1.3 |
↑ | 3 | 0.05 | D | |||
INS | rs5505 | agatcactgt |
c
t |
cttctgccat |
53
44 |
↑ | 4 | 10-3 | B | type 1 diabetes after neonatal diabetes mellitus | [108] |
(hypothetically) hyperinsulinemia elevates the placental leptin which causes neonatal macrosomia | [this work], [115] | ||||||||||
rs563207167 | tcagccctgc |
c
t |
tgtctcccag |
53
44 |
↑ | 4 | 10-3 | B | |||
rs11557611 | gatcactgtc |
c
t |
ttctgccatg |
53
60 |
↓ | 2 | 0.05 | D | (hypothetically) hypoinsulinemia slows down fetal growth | [this work], [116] |
See “Note” under Table 1