TABLE 2.
CHROMOSOME 3 LOCATION, MINOR ALLELE FREQUENCY, AND TYPE OF SELECTED MYLK SNPS IN EUROPEAN AMERICAN SUBJECTS
| dbSNP or Celera ID | Chr.3 Location (Genome Build 34) | Inter-SNP Distance (bp) | MAF (chromosomes) | Type | Nucleotide/Amino Acid Change | |
|---|---|---|---|---|---|---|
| MYLK_016* | 124,873,039 | 0 | 0.17 (164) | c.-1747 | A/T | |
| MYLK_017* | 124,872,673 | 366 | 0.20 (164) | c.-1381 | T/C | |
| MYLK_021* | 124,872,210 | 463 | 0.19 (166) | 5′UTR (c.-918) | A/G | |
| MYLK_022* | 124,872,078 | 132 | 0.20 (162) | 5′ UTR (c.-786) | T/G | |
| MYLK_011* | 124,871,364 | 714 | 0.17 (166) | Ex1+48 | C/T | |
| AOD29† | hcv1602689 | 124,862,305 | 9,059 | 0.11 (160) | Intron | G/C |
| MYLK_P1 | rs9829784 | 124,861,037 | 1,268 | 0.22 (158) | Intron | C/T |
| AOD28 | rs10934651 | 124,854,110 | 8,195 | 0.06 (166) | Intron | C/G |
| AOD27 | rs4678062 | 124,850,009 | 4,101 | 0.21 (164) | Intron | C/T |
| AOD26 | rs11714297 | 124,840,480 | 9,529 | 0.23 (170) | Intron | C/T |
| MYLK_007*† | 124,833,528 | 6,952 | 0.10 (168) | C.62 | C/A (Pro > His) | |
| AOD24† | rs11707609 | 124,824,325 | 9,203 | 0.36 (166) | Intron | G/A |
| AOD22† | hcv1602709 | 124,800,686 | 23,639 | 0.58 (166) | Intron | A/G |
| AOD20† | rs11718105 | 124,784,609 | 16,077 | 0.33 (164) | Intron | C/T |
| MYLK_004* | 124,773,739 | 10,870 | 0.38 (168) | C.1005 | T/C | |
| AOD15† | rs820336 | 124,736,682 | 37,057 | 0.21 (168) | Intron | A/G |
| AOD14† | rs33262 | 124,734,125 | 2,557 | 0.21 (164) | Intron | A/T |
| MYLK_024*† | 124,732,490 | 1,635 | 0.23 (168) | C.3558 | T/C | |
| MYLK_025*† | 124,732,006 | 484 | 0.10 (168) | IVS17+477 | C/T | |
| AOD12 | rs33264 | 124,730,689 | 1,317 | 0.18 (168) | Intron | G/C |
| AOD11† | rs11717814 | 124,729,452 | 1,237 | 0.21 (166) | Intron | C/G |
| AOD9† | rs820325 | 124,706,578 | 22,874 | 0.10 (160) | Intron | A/G |
| AOD7† | rs702032 | 124,692,874 | 13,704 | 0.07 (168) | Intron | C/T |
| MYLK_034*† | rs1254392 | 124,688,914 | 3,960 | 0.08 (166) | C.4317 | T/C |
| MYLK_036*† | 124,677,938 | 10,976 | 0.08 (166) | C.4842 | T/C | |
| AOD3† | rs820447 | 124,669,080 | 8,858 | 0.13 (158) | Intron | A/G |
| AOD2† | rs3845915 | 124,660,735 | 8,345 | 0.13 (168) | Intron | T/C |
| MYLK_037*† | 124,658,305 | 2,430 | 0.17 (162) | IVS31+72 | G/C |
Definition of abbreviations: MAF, minor allele frequency; MYLK, myosin light chain kinase; SNP, single-nucleotide polymorphism.
*
Indicate SNPs selected by SNP discovery (as opposed to SNPs selected from the public database).
†
Common SNPs which have MAF ⩾ 10% in both European Americans and African Americans.