rsID | Â | rs2278426 | rs145464906 |
---|---|---|---|
Allele | Alleles | C/T | C/T |
Ancestral | C | C | |
Minor allele | T | T | |
Position | Coordinates | Chr 19:11350488 | Chr 19:11350874 |
Strand | Forward strand | Forward strand | |
Position in transcript | 194 | 380 | |
Position in CDS | 175 | 361 | |
Position in protein | 59 | 121 | |
Consequence | Consequence | Non-synonymous | Stop gained |
Codons | CGG to TGG | CAG to TAG | |
Amino acids | R to W | Q to Stop | |
MAF | Â | 15.2% [26] | <1% [26] |
26%, Hispanics; 18%, AA; 5% EA [19] | 0.1%, EUA; 0.01%, AFA [27] | ||
Trait/Effect | HDL-C | Lower in AA (P = 2.1  ×  10-4) and Hispanic (P = 0.025) [19] | 10 mg/dl higher in EUA (P = 5.1  × 10-11) [27] |
14% lower in Mexicans (P = 3.4  × 10-9) [29] | |||
LDL-C | 15% lower in AA (P = 0.005) and Hispanics (P = 0.033) [19] | NS | |
Triglycerides | NS | 15% lower in EUA (P = 0.003) [27] |