Table 2.
Haplotypes in the allele with the exon 5–6 deletion
| SNP | SNP alleles | Location | Average Heterozygosity | MAF | Fam A | Fam B | Fam C | Fam D | Shared haplotype | Alleles in Swedish population |
|---|---|---|---|---|---|---|---|---|---|---|
| rs2301286 |
A/C |
Exon 1 UTR |
0.397 |
A = 0.3832 |
C |
C |
C |
C |
C |
A/C |
| rs115158839 |
G/T |
Exon 1 UTR |
0.033 |
T = 0.006 |
G |
G |
G |
G |
G |
G |
| rs72714915 |
C/G |
Exon 1 UTR |
0.095 |
G = 0.0367 |
C |
C |
C |
C |
C |
C/G |
| rs2301287 |
C/G |
Intron 2 |
0.444 |
G = 0.3759 |
C |
C |
C |
C |
C |
C/G |
| rs12030747 |
G/A |
Exon 7 (Glu234Lys) |
0.013 |
NA |
G |
G |
G |
G |
G |
G |
| rs36013429 | G/A | Exon 9 (His304Arg) | 0.008 | A = 0.0476 | G | G | G | G | G | G/A |
MAF minor allele frequency.
NA not available.