Table II.
STX11 SNPs in the Patients and in Their Parents
| STX11 gene | Family 1 | Family 2 | Family 3 | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| dsSNP IDa | Allelesb | Patient 1 | Mother | Father | Patient 2 | Mother | Father | Patient 3 | Mother | Father |
| rsl 1155347 | A/T | T/T | T/T | T/A | T/T | T/T | T/T | T/T | T/A | T/T |
| rs1322452 | G/A | A/A | A/A | A/G | A/A | A/A | A/A | A/A | A/G | A/A |
| rs7756004 | G/A | A/A | A/A | A/G | A/A | A/A | A/A | A/A | A/G | A/A |
| rs7764327 | T/A | A/A | A/A | A/T | A/A | A/A | A/A | A/A | A/T | A/A |
| rs17073478 | A/T | T/T | T/T | T/T | T/T | T/T | T/T | T/T | T/T | T/T |
a
Included in NCBI build 36 as 144517716, 144517984, 144521223, 144535034, and 144537619, respectively (with minor-allele frequencies (%) of 13, 48, 14, 13, and 44, respectively)
b
Minor alleles, with frequencies (%) in Argentina of 32, 37, 30, 30 and 0, respectively, are shown in italics