Confirmed Common and Rare Nonsynonymous Single Nucleotide Polymorphisms (SNP)
| Gene | Exon | Codon | Amino acid | Ethnicity | Disorder | Frequency A-A whites | Comments | |
| Common (>1%) | ||||||||
| ACAT2 | 7 | ACC→ATC | T254I | Multiple | — | 0.20 | 0.25 | |
| CHA1 | 1 | GGC→AGC | G2S | Multiple | — | — | — | Acton et al. 1999 |
| 3 | GTC→ATC | V135I | Multiple | — | — | — | Acton et al. 1999 | |
| SCAP | 15 | GTC→ATC | V796I | Multiple | — | 0.15 | 0.48 | Iwaki et al. 1999 |
| SREBF-2 | 10 | GCC→GGC | A595G | Multiple | — | 0.39 | 0.75 | |
| 10 | GTG→ATG | V623M | A-A | — | 0.04 | 0 | ||
| 14 | AGG→AGC | R860S | Multiple | — | 0.02 | 0.05 | ||
| Rare (<1%) | ||||||||
| HMGCR | 16 | ATA→GTA | I638V | Caucasian | Atypical Type III | 0 | 0 | Insufficient data |
| Caucasian | FCHL | Insufficient data | ||||||
| Caucasian | FCHL | No co-segregation | ||||||
| Caucasian | Low HDL-C (AD) | No co-segregation | ||||||
| LDLR | 3 | GAC→GTC | D79V | Caucasian | Atypical Type III | 0 | 0 | See Fig. 1A. Not detected by SSCP. |
| 4 | TCG→TTG | S156L | Puerto Rican | FH | 0 | 0 | Hobbs et al. 1992 | |
| 6 | GAG→AAG | E256K | Caucasian | Diet-induced | 0 | 0 | Ekstrom et al. 1995 | |
| HCL | Family not available. | |||||||
| S1P | 13 | AAC→AGC | N544S | Greek | FCHL | 0 | 0 | No co-segregation. |
| 20 | CAG→TAG | Q868X | Caucasian | Polygenic HCL | 0 | 0 | See Fig. 1B. No co-segregation. | |
| SREBF1 | 18a | CGG→CAG | R1064Q | Caucasian | Type V, DM | 0 | 0 | No co-segregation. |
-
↵Abbreviations: FH, Familial Hypercholesterolemia; HCL, hypercholesterolemia; DM, Diabetes Mellitus; FCHL, Familial Combined Hyperlipidemia; HDL-C, HDL-cholesterol; A-A, African-Americans.
-
↵Minor allele frequency in African-Americans (A-A) and Whites.
-
↵Common (>1%) or rare (<1%) in the general population.
-
↵Isoleucine at amino acid position 254 is substituted for threonine. All amino acids are numbered according to the initiator codon (ATG) being position 1.
-
↵Not a sufficient number of segregations in the family of the proband to assess relationship between sequence variant and the hyperlipidemia.
