DHCR7 rs12785878(PMID:24184224)

SNP information:
Gene ID:1717
Genotype:G/T
Functional Consequence:intron variant
Global MAF:T=0.3540/1773
DNA change:c.146+1233G>A
Description:7-dehydrocholesterol reductase
Chromosome:11:71456403
Article information:
Method:polymerase chain reaction
Population:Chinese Han Case:Control = 827:1600
Related disease:Behcet's disease (BD) Year:2013
Allele/Genotype Case Freq.Case Control Freq.Control OR(95%CI) P value Pc value
TT 256 0.31 367 0.229 1.506 1.82E–05 3.28E–04
TG 396 0.479 790 0.494 0.942 0.486 8.75
GG 175 0.212 443 0.277 0.701 4.69E–04 0.008
T 908 0.549 1524 0.476 1.339 1.56E–06 2.82E–05
G 746 0.451 1676 0.524 0.747 0.28 NS
Allele/Genotype BD with genital ulcer (N=427) Freq.Case Control Freq.Control OR P value Pc value
TT 1454 0.340 367 0.229 1.727 6.76E-05
TG 187 0.439 790 0.494
GG 95 0.221 443 0.277
T 477 0.56 1524 0.476 1.399 1.01E-04
G 375 0.44 1676 0.524 0.715 1.01E-04
Allele/Genotype BD with Skin lesions(N=552) Freq.Case Control Freq.Control OR P value Pc value
TT 172 0.312 367 0.229 1.521 0.003
TG 252 0.475 790 0.494
GG 128 0.232 443 0.277
T 596 0.54 1524 0.476 1.290 0.002
G 508 0.46 1676 0.229 0.775 0.002
Allele/Genotype BD with positive pathergy test (N=216) Freq.Case Control Freq.Control
TT 65 0.301 367 0.229
TG 100 0.463 367 0.229
GG 51 0.236 790 0.494
T 230 0.532 443 0.277
G 202 0.468 1524 0.476
Allele/Genotype BD with Hypopyon(N=193) Freq.Case Control Freq.Control
TT 58 0.301 367 0.229
TG 93 0.482 790 0.494
GG 42 0.218 443 0.277
T 209 0.542 1524 0.476
G 177 0.459 1676 0.524
Allele/Genotype BD with Arthritis(N=125) Freq.Case Control Freq.Control
TT 27 0.216 367 0.229
TG 64 0.512 790 0.494
GG 34 0.272 443 0.277
T 118 0.472 1524 0.476
G 132 0.528 1676 0.524
Allele/Genotype BD with anterior uveitis(N=119) Freq.Case Control Freq.Control
TT 30 0.252 367 0.229
TG 57 0.479 790 0.494
GG 32 0.269 443 0.277
T 117 0.492 1524 0.476
G 121 0.508 1676 0.524
Allele/Genotype BD with panuveitis(N=708 Freq.Case Control Freq.Control
TT 165 0.233 367 0.229
TG 341 0.482 790 0.494
GG 202 0.285 443 0.277
T 671 0.474 1524 0.476
G 745 0.526 1676 0.524
Function:Undone
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