Table 1 SNPs used in this study
Gene | SNP ID | TaqMan assay ID | Nucleotide Change | Frequency a | Codon change | Genome position (GRCh38.p12) | Associated diseases with null mutations |
|---|---|---|---|---|---|---|---|
APOA5 | rs3135506 | C_25638153_10 | C > G | C = 0.056 (279/5008) | S[TCG] > W[TGG] | chr11:116,791,691 | Familial hypertriglyceridemia |
APOB | rs1042034 | C_7615376_20 | G > A | G = 0.370 (1855/5008) | S[AGT] > N[AAT] | chr2:21,002,409 | Familial hypercholesterolemia II |
APOC3 | rs2854116 | C_12081482_20 | C > T | T = 0.452 (2262/5008) | n.a. b | chr11:116,829,453 | Hypertriglyceridemia, Nonalcoholic fatty liver disease |
APOE | rs429358 | C_3084793_20 | C > T | C = 0.151 (754/5008) | R[CGC] > C[TGC] | chr19:44,908,684 | Hyperlipoproteinemia type III |
LDLR | rs2228671 | C_27208873_10 | C > T | T = 0.057 (285/5008) | C[TGC] > C[TGT] | chr19:11,100,236 | Familial hypercholesterolemia I |