TABLE 2

Polymorphisms identified in CBLB and single-locus test results

Variant nameMap positiondbSNPMinor allele frequencyAllelic R2TransmittedNot transmittedP valueLocation
DIL4620106873087rs15039210.24497.07222022250.885′
DIL4621106872769ss134521390.0235′
DIL4622106872519ss134521400.0055′
DIL4623106871969rs15039220.0055′
DIL4624*106867943ss134521420.229htSNP5995940.895′
DIL4625106776408ss134521430.028Intron 4
DIL4649106776404-5ss134521670.12887.183233210.94Intron 4
DIL4650106776371-2ss134521680.021Intron 4
DIL4651106776332-6ss134521690.26188.486636550.79Intron 4
DIL4626*106776303rs37725120.109htSNP2612590.92Intron 4
DIL4627106745995ss134521450.016Exon 6
DIL4628*106740946rs32139280.027htSNP272727310.74Intron 6
DIL4629106740829ss134521470.005Intron 6
DIL4652106740755ss134521700.006Intron 6
DIL4630*106737184rs22897460.413htSNP186118790.62Intron 8
DIL5960106734298ss134521730.026Intron 8
DIL5961106734124ss134521740.005Exon 9
DIL4634106720318ss134521520.005Exon 10
DIL4633106720255rs23050350.25893.406246090.61Exon 10
DIL4632106720186rs23050360.25893.406246090.61Exon 10
DIL4631106720058ss134521490.012Intron 10
DIL4636*106704073rs23050370.286htSNP7817710.76Exon 11
DIL4635106703765ss134521530.286100.007817710.76Intron 11
DIL4637106702263rs37725340.04399.58276127450.19Exon 12
DIL4663106681919ss134521720.005Intron 14
DIL4638106658744rs10428520.29097.59205920700.753′UTR
DIL4639*106658224ss134521570.096htSNP1991990.993′
DIL4640106657549ss134521580.0163′
DIL4641*106656495ss134521590.042htSNP276227450.183′
DIL4642106656481ss134521600.30793.01201220240.703′
DIL4653106656362-3ss134521710.13581.283783730.833′
DIL4643106656361ss134521610.29794.25205020560.893′
DIL4644106656043ss134521620.286100.00205120610.763′
DIL4645*106656038ss134521630.130htSNP254725830.093′
DIL4646106656037ss134521640.0053′
DIL4647*106655931rs22931480.443htSNP162616400.703′
DIL4648106655861ss134521660.0053′
  • Variant name based on local naming scheme for polymorphisms. Map positions on human chromosome 3 from NCBI build 33. Minor allele frequencies shown are based on the sequencing panel of 96 type 1 diabetic subjects. Transmitted and not transmitted were estimated for the ungenotyped SNPs with allele frequencies >0.03 from the regression equations computed in the preliminary sequencing study.

  • *

    * Denotes htSNP. dbSNP numbers for all novel polymorphisms in boldface. Single-locus tests at SNPs other than htSNPs were calculated from imputed data based on htSNP genotypes and LD information obtained from the sequencing panel. The single-locus P values were obtained using paired t tests. Data were not imputed and tests not performed for SNPs with allele frequencies <0.03. UTR, untranslated region.