Table 1.
Gene | Chromosome | SNP | Function | RS# | Allele Frequency |
|
---|---|---|---|---|---|---|
Observed | Reported† | |||||
GCK | 7p15.3-p15.1 | −515G>A | Promoter | rs1799884 | 0.194 | 0.203 |
IVS1-11823G>A | Intron | rs2908292 | 0.209 | 0.2 | ||
IVS1+6037T>C | Intron | rs758985 | 0.175 | 0.175 | ||
IVS1+9652C>T | Intron | rs2300586 | 0.165 | 0.158 | ||
IVS1+11382G>A | intron | rs2244164 | 0.445 | 0.45 | ||
IVS3-1489C>T | Intron | rs2268572 | 0.184 | 0.175 | ||
IVS6+87A>C | intron | rs2268573 | 0.479 | 0.457 | ||
GFPT1 | 2p13 | IVS12-1764C>T | Intron | rs4625963 | 0.147 | 0.167 |
IVS14-3094T>C | Intron | rs12466648 | 0.173 | 0.186 | ||
Ex19-115G>T | 3'UTR | rs2667 | 0.413 | 0.408 | ||
*4058A>G | 3'Flank | rs13751 | 0.39 | 0.408 | ||
GPI | 19q13.1 | IVS6-378T>C | Intron | rs8191376 | 0.072 | 0.07 |
IVS9+2363C>G | Intron | rs7248411 | 0.177 | 0.181 | ||
Ex6+3A>G | G163G | rs1801015 | 0.07 | 0.103 | ||
HK2 | 2p13 | IVS1-6165G>A | Intron | rs680545 | 0.446 | 0.45 |
IVS1+7072C>T | Intron | rs35902493 | 0.352 | 0.38 | ||
IVS2+3581C>T | Intron | rs3771781 | 0.415 | 0.48 | ||
Ex1+318A>G | 5'UTR | rs656489 | 0.474 | 0.45 | ||
Ex4+51A>T | Q142H | rs2229621 | 0.157 | 0.233 | ||
Ex7+62T>C | D251D | rs2229622 | 0.216 | 0.237 | ||
Ex15+41C>T | N692N | rs2229626 | 0.398 | 0.408 | ||
Ex16-78A>G | L766L | rs10194657 | 0.373 | 0.35 | ||
Ex17-79G>A | R844K | rs2229629 | 0.21 | 0.2 | ||
Ex18+407T>G | 3'UTR | rs943 | 0.458 | 0.455 | ||
OGT | Xq13 | IVS8-72G>A | Intron | rs3736670 | 0.151 | 0.142 |
IVS18-424A>G | Intron | rs6525489 | 0.43 | 0.45 |
SNP, single nucleotide polymorphism; RS#, reference SNP identification number; UTR, untranslated region.
The reported minor allele frequency was from NCBI dbSNP database.