Table 1.
Polymorphism Discovery Summary for Cases and Controls.
| SNPID | SNP Coordinate | Assayed In Controls |
Assayed In Cases |
SNP property | Alleles | MAF |
|---|---|---|---|---|---|---|
| rs5029933 | 138192062 | N | Y | Intron 1 | A/G | 0.049 |
| rs79608867 | 138192270 | N | Y | Intron 1 | G/C | 0.008 |
| rs3214646* | 138192325 | N | Y | Intron 1 | T/- | 0.500 |
| novel_8 | 138192351 | Y | Y | Exon 2, 5' UTR | T/G | 0.003 |
| novel_2 | 138192601 | Y | Y | Exon 2, Ser79Arg | G/C | 0.001 |
| rs5029938 | 138195633 | N | Y | Intron 2 | C/T | 0.049 |
| rs643177 | 138195693 | N | Y | Intron 2 | C/T | 0.248 |
| rs5029939 | 138195723 | N | Y | Intron 2 | C/G | 0.041 |
| novel_3 | 138195726 | N | Y | Intron 2 | A/C | 0.004 |
| rs5029940 | 138195964-6 | Y | Y | Intron 2 (−15 to −18 from Ex. | 3) -/CCT | 0.352 |
| novel_9 | 138195991 | Y | Y | Exon 3, Asn102Ser | A/G | 0.001 |
| rs2230926 | 138196066 | Y | Y | Exon 3, Phe127Cys | T/G | 0.029 |
| novel_10 | 138196156 | Y | Y | Exon 3, Leu157Pro | T/C | 0.001 |
| rs5029947 | 138196817 | Y | Y | Intron 3 (-8bp from Ex. 4) | C/G | 0.004 |
| rs5029948 | 138197329 | Y | Y | Intron 5 | C/T | 0.052 |
| rs661561 | 138197331 | Y | Y | Intron 5 | C/A | 0.342 |
| rs5029964 | 138197341 | Y | Y | Intron 5 | A/G | 0.001 |
| rs582757 | 138197824 | Y | Y | Intron 5 | T/C | 0.268 |
| novel_4 | 138197889 | Y | Y | Intron 5 | C/- | 0.010 |
| novel_11 | 138199316 | Y | N | Intron 6 | A/G | 0.001 |
| rs610604 | 138199417 | Y | Y | Intron 6 | T/G | 0.323 |
| novel_12 | 138199898 | Y | Y | Exon 7, Arg439Gln | G/A | 0.001 |
| novel_13 | 138200220 | Y | Y | Exon 7, Glu546Glu | G/A | 0.001 |
| rs5029953 | 138200760 | Y | Y | Intron 7 | G/A | 0.009 |
| rs5029965 | 138200852 | Y | Y | Intron 7 | G/A | 0.011 |
| novel_5 | 138201240 | Y | Y | Exon 8, Thr647Pro | A/C | 0.004 |
| novel_14 | 138202130 | Y | Y | Intron 8 | G/A | 0.006 |
| novel_15 | 138202223 | Y | Y | Exon 9, Pro714Ser | C/T | 0.001 |
| novel_6** | 138202258 | Y | Y | Exon 9, Leu725Leu | G/A | 0.004 |
| novel_16 | 138202314 | Y | Y | Exon 9, Gly744Asp | G/A | 0.001 |
| rs5029956 | 138202378 | Y | Y | Exon 9, Pro765Pro | C/T | 0.003 |
| novel_7 | 138202557 | Y | Y | Exon 9, 3' UTR | G/T | 0.013 |
| novel_17 | 138202630 | Y | Y | Exon 9, 3' UTR | G/A | 0.001 |
Coordinates obtained from hg19. Flanking sequences are on the positive strand of the genome and SNP alleles are shown as Major/Minor. Assayed in Controls and Assayed in Cases indicate if sequence data was obtained at that base in the control and case groups, respectively.
MAF- Minor Allele Frequency.
*
rs3214646 removed for violation of Hardy-Weinberg Equilibrium (P=3.7009×10−36).
**
Novel SNP 6 is located within zinc-finger motif 6.