Table 2.
Gene (OMIM ID) | dbSNP] rel. 147 or see [Ref] | 5′ flank |
wt mut |
3′ flank | K D , nM | Known diseases (known SNP markers) or hypothetical disease (candidate SNP markers) | (Ref) or (this work) | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
wt mut |
Δ | Z | α | ρ | |||||||
CETP (118470) | DEL-51(18 bp) Plengpanich et al., 2011 | cgtgggggct |
18bp − |
gggctccagg |
4 7 |
↓ | 7 | 10−6 | A | Hyperalphalipoproteinemia that prevents atherosclerosis and (hypothetically) higher risk of AD (rs1800775 of CETP [down] increases risk of AD) | Plengpanich et al., 2011 (this work), Rodriguez et al., 2006 |
rs17231520 | ggggctgggc |
g a |
gacatacata |
4 2 |
↑ | 10 | 10−6 | A | (hypothetically) lower risk of AD | ||
rs569033466 | atacatatac |
g a |
ggctccaggc |
4 3 |
↑ | 4 | 10−3 | B | |||
rs757176551 | catatacggg |
c g |
tccaggctga |
4 2 |
↑ | 10 | 10−6 | A | |||
MMP12 (601046) | rs2276109 | gatatcaact |
a g |
tgagtcactc |
11 14 |
↓ | 3 | 10−2 | C | Lower risk of psoriasis, systemic sclerosis, and asthma | Ponomarenko et al., 2015, (this work), Walker et al., 2006; Ito et al., 2007 |
rs572527200 | gatgatatca |
a g |
ctatgagtca |
11 14 |
↓ | 3 | 10−2 | C | (hypothetically), lower risk of AD (MMP12 excess provokes inflammatory response whose result is neuronal cell loss) | ||
MBL2 (154545) | rs72661131 | tctatttcta |
t c |
atagcctgca |
2 4 |
↓ | 12 | 10−6 | A | Variable immunodeficiency, preeclampsia, stroke | Ponomarenko et al., 2015, (this work), Sjolander et al., 2013 |
rs562962093 | atctatttct |
a g |
tatagcctgc |
2 5 |
↓ | 15 | 10−6 | A | (hypothetically) higher risk of AD | ||
rs567653539 | tttctatata |
g a |
cctgcaccca |
2 1 |
↑ | 12 | 10−6 | A | (hypothetically) lower risk of AD | ||
SOD1 (147450) | rs7277748 | ggtctggcct |
a g |
taaagtagtc |
2 7 |
↓ | 17 | 10−6 | A | Amyotrophic lateral sclerosis, (hypothetically), higher risks of Aβ oligomerization and memory loss in AD | Niemann et al., 2007, (this work), Murakami et al., 2011 |