Table 1.
Parental Transmission Disequilibrium Testing Results of Single Nucleotide Polymorphisms (SnPs)s Within and Adjacent to C21orf91.
| SNP | Location | Change | χ2 | P valuea |
| rs10446073 | 5′ of geneb | G > T | 3.57 | .06 |
| rs2824499 | Intron 2 | C > T | 2.25 | .13 |
| rs2824495 | Exon 3 | C > G: N115K | 2.25 | .13 |
| rs1047978c | Exon 3 | C > G: D136E | 1.69 | .19 |
| rs1062202 | 3′ UTR | T > C | 8.00 | .005 |
| rs243588c | 3′ of gened | A > G | 1.28 | .26 |
Parental transmission disequilibrium P values across the C21orf91 gene are shown. Computed χ2 values across the chromosome 21 candidate region are shown in Figure 2.
Abbreviations: SNP, single nucleotide polymorphism; UTR, untranslated region.
a
Derived from parental transmission disequilibrium testing.
b
Located approximately 1.1 kb upstream of the start site of transcription—potential promoter region.
c
SNPs with positive LOD scores by linkage analysis.
d
Located approximately 6.7 kb downstream of the 3′ end of the transcript.