Gene | dbSNP [6] rel. 147 or see [Ref] | 5′ flank | wt mut | 3′ flank | KD, nM | hypothetical disease (candidate SNP markers) | [this work], [Ref] | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
wt mut | Δ | Z | α | ρ | |||||||
AR | rs763353257 | aagggaagta | g - | gtggaagatt | 30 21 | ↑ | 6 | 10-6 | A | (hypothetically) higher risks of androgenetic alopecia and androgen-induced premature senescence in adult men | [251] |
rs749306567 | aagggaagta | g a | gtggaagatt | 30 15 | ↑ | 11 | 10-6 | A | |||
rs377711437 | cagcactgca | g a | ccacgacccg | 75 66 | ↑ | 2 | 0.05 | D | |||
MTHFR | rs780207553 | cacgcactct | g a | ggcctgagct | 74 38 | ↑ | 12 | 10-6 | A | (hypothetically) higher risk of pre-eclampsia | [252] |
rs749532075 | tccctcccca | c t*) | gcactctggg | 74 50 | ↑ | 7 | 10-6 | A | |||
rs771960561 | cctctgttcc | c t | tccccacgca | 74 66 | ↑ | 3 | 10-2 | B | |||
rs773214376 | tgcctctgtt | c t | cctccccacg | 74 66 | ↑ | 2 | 0.05 | D | |||
rs566478202 | ggtgcctctg | t g | tccctcccca | 74 85 | ↓ | 2 | 0.05 | D | (hypothetically) higher risk of adverse pregnancy outcomes | [253] | |
rs752181249 | gaggatctac | a c | gccatcagct | 27 35 | ↓ | 4 | 10-3 | B | |||
DNMT1 | rs570287204 | gtgggggggg | - gtg | tgtgtgcccg | 52 23 | ↑ | 11 | 10-6 | A | (hypothetically) under stress, higher risk of epigenetic disorders of fetal and newborn brain development causing long-term neurobehavioral problems that may be reversible in adolescence | |
rs534819409 | cgtggggggg | g t | ggcctgagct | 52 30 | ↑ | 7 | 10-6 | A | |||
rs553454792 | gcgtgggggg | g t | gtgtgtgccc | 52 23 | ↑ | 11 | 10-6 | A | |||
rs558447661 | cgtggagctt | g t | gacgagccca | 72 29 | ↑ | 15 | 10-6 | A | |||
rs535899986 | cccagcaaac | c t | gtggagcttg | 72 58 | ↑ | 5 | 10-3 | B | |||
rs143796354 | cacctcccag | c a | aaaccgtgga | 72 26 | ↑ | 20 | 10-6 | A | |||
rs756103340 | gcggcgcgca | g a | cggcagttgg | 92 79 | ↑ | 3 | 10-3 | B | |||
rs758026532 | ccagcaaacc | g t*) | tggagcttgg | 72 88 | ↓ | 4 | 10-3 | B | (hypothetically) higher risks of activation of protooncogenes in cancer | [256] | |
rs772821225 | gtctccaata | a c | atgcagctgg | 7 8 | ↓ | 2 | 0.05 | D | |||
CYP17A1 | rs758657961 | ctggagttga | g a | ccagcccttg | 56 30 | ↑ | 11 | 10-6 | A | (hypothetically) higher risk of hyperandrogenism in polycystic ovary syndrome | [257] |
rs373488849 | tgccctggag | t c | tgagccagcc | 56 70 | ↓ | 4 | 10-3 | B | (hypothetically) higher risk of fertility impairments | [258] | |
NR5A1 | rs147497093 | gttcagcaag | c t | acaagagaaa | 19 6 | ↑ | 17 | 10-6 | A | (hypothetically) higher risks of adrenal tumors and endometriosis | [259] |
rs535432539 | cgctgcttcc | g a | cttcgtaagt | 31 18 | ↑ | 9 | 10-6 | A | |||
rs553326158 | gcgctgcttc | c t | gcttcgtaag | 31 26 | ↑ | 3 | 10-2 | C | |||
rs143242438 | caccctcatc | c t | ggtgtgagag | 31 21 | ↑ | 6 | 10-6 | A |