Table 1.
Overview of the polymorphisms genotyped in the African population
| SNP Id a | SNP rs# | GRCh37 location (bp) | Localization within gene | Alleles b | MAF c | Molecular change |
|---|---|---|---|---|---|---|
| rs1047933 | 13399333 | HS3ST3A1 3'UTR | T > A | - | - | |
| rs67951062 | 13399487 | HS3ST3A1 3'UTR | - > TTT | - | - | |
| rs11385090 | 13399495 | HS3ST3A1 3'UTR | A > - | - | - | |
| rs67556828 | 13399497 | HS3ST3A1 3'UTR | - > T | - | - | |
| rs56160453 | 13399536 | HS3ST3A1 ex2 | A > G | - | mis-sense H [His] ⇒ R [Arg] | |
| rs56184152 | 13399569 | HS3ST3A1 ex2 | C > T | - | mis-sense P [Pro] ⇒ L [Leu] | |
| 1 | rs62057033 | 13399616 | HS3ST3A1 ex2 | T > A | 0.069 | Synonymous |
| rs55688668 | 13399778 | HS3ST3A1 ex2 | G > A | - | Synonymous | |
| rs56408399 | 13399795 | HS3ST3A1 ex2 | C > T | - | mis-sense R [Arg] ⇒ W [Trp] | |
| rs61729712 | 13399884 | HS3ST3A1 ex2 | G > A | - | mis-sense S [Ser] ⇒ N [Asn] | |
| 2 | rs61732181 | 13399928 | HS3ST3A1 ex2 | G > A | 0.043 | Synonymous |
| rs55888783 | 13400004 | HS3ST3A1 ex2 | A > G | - | mis-sense D [Asp] ⇒ G [Gly] | |
| rs56307410 | 13400014 | HS3ST3A1 ex2 | G > A | - | missense V [Val] ⇒ M [Met] | |
| 3 | rs61744056 | 13400057 | HS3ST3A1 ex2 | C > T | 0.005 | Synonymous |
| 4 | rs8080565 | 13400153 | HS3ST3A1 intron | C > T | 0.106 | - |
| rs60532842 | 13504194 | HS3ST3A1 ex1 | C > A | - | mis-sense A [Ala] ⇒ S [Ser] | |
| rs28663356 | 13504408 | HS3ST3A1 ex1 | C > A | - | Synonymous | |
| rs73298111 | 13504474 | HS3ST3A1 5'UTR | C > T | - | - | |
| 5 | rs3744337 | 13504665 | HS3ST3A1 5'UTR | C > T | 0.330 | - |
| rs3744336 | 13504689 | HS3ST3A1 5'UTR | A > T | - | - | |
| rs34011501 | 13504833 | HS3ST3A1 5'UTR | - > T | - | - | |
| 6 | rs3744335 | 13504884 | HS3ST3A1 5'UTR | A > C | 0.320 | - |
| 7 | rs28470223 | 13505023 | HS3ST3A1 5'UTR | C > T | 0.161 | - |
| 8 | rs78863672 | 13505237 | HS3ST3A1 5'UTR | G > T | 0.433 | - |
| rs67848311 | 13505244 | intergenic | C > - | - | - | |
| rs58718148 | 13505245 | intergenic | C > - | - | - | |
| 9 | rs2072243 | 14204380 | HS3ST3B1 5'UTR | C > T | 0.150 | - |
| 10 | rs2072242 | 14204410 | HS3ST3B1 5'UTR | T > C | 0.184 | - |
| 11 | rs115229628 | 14204423 | HS3ST3B1 5'UTR | G > A | 0.097 | - |
| rs72241295 | 14204547-14205186 | HS3ST3B1 5'UTR → ex1 | 639 bp del | - | Large deletion | |
| 12 | rs62636623 | 14205082 | HS3ST3B1 ex1 | G > C | 0.020 | mis-sense G [Gly] ⇒ R [Arg] |
| 13 | rs62636622 | 14205168 | HS3ST3B1 ex1 | G > A | 0.021 | Synonymous |
| 14 | rs62056073 | 14248376 | HS3ST3B1 ex2 | A > G | 0.009 | mis-sense I [Ile] ⇒ V [Val] |
| 15 | rs9906855 | 14248423 | HS3ST3B1 ex2 | C > T | 0.173 | synonymous |
| rs56307410 | 14248466 | HS3ST3B1 ex2 | G > A | - | mis-sense V [Val] ⇒ M [Met] | |
| rs55888783 | 14248476 | HS3ST3B1 ex2 | A > G | - | mis-sense D [Asp] ⇒ G [Gly] | |
| rs61732181 | 14248552 | HS3ST3B1 ex2 | G > T/C | - | synonymous | |
| 16 | rs61729712 | 14248596 | HS3ST3B1 ex2 | G > A | 0.006 | mis-sense S [Ser] ⇒ N [Asn] |
| rs56408399 | 14248685 | HS3ST3B1 ex2 | C > T | - | mis-sense R [Arg] ⇒ W [Trp] | |
| 17 | rs55688668 | 14248702 | HS3ST3B1 ex2 | G > A | 0.066 | synonymous |
| rs61741326 | 14248864 | HS3ST3B1 ex2 | T > A | - | synonymous | |
| 18 | rs9906590 | 14248877 | HS3ST3B1 ex2 | G > A | 0.098 | mis-sense E [Glu] ⇒ K [Lys] |
| rs56184152 | 14248911 | HS3ST3B1 ex2 | C > T | - | mis-sense P [Pro] ⇒ L [Leu] | |
| rs56160453 | 14248944 | HS3ST3B1 ex2 | A > G | - | missense H [His] ⇒ R [Arg] | |
| 19 | rs3785655 | 14249167 | HS3ST3B1 3'UTR | C > T | 0.059 | - |
| 20 | rs7379332 | 14249433 | HS3ST3B1 3'UTR | C > T | 0.070 | - |
aDetected SNPs are shown. bMajor allele > minor allele. cAllele frequency that was calculated in the study population is shown