JAK1 rs310236(PMID:23611997)

SNP information:
Gene ID:3716
Genotype:G/C
Functional Consequence:ntron variant
Global MAF:C=0.3828/1917
DNA change:c.648-966C>G
Description:Janus kinase 1
Chromosome:1:64868174
Article information:
Method:PCR–RFLP
Population:Chinese Case:Control = 737:809
Related disease:Vogt–Koyanagi–Harada syndrome (VKH) Year:2013
Allele/Genotype Case Freq.Case Control Freq.Control OR(95%CI) P value Pc value
GG 361 0.49 474 0.586 0.68 1.53×10−4 0.005
CG 312 0.423 288 0.356 1.33 6.7×10−3 0.201
CC 64 0.087 47 0.058 1.54 0.028 0.84
G 1034 0.701 1236 0.764 0.72 8.84×10−5 8.84×10−4
C 440 0.299 382 0.236
Function:Undone
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