Table 1. Main characteristics of all 30 SNPs examined in the Stuttgart population.
| Variant | dbSNP | Region | cDNA a/Genotype | Protein b | MAF c | HWE |
| rs/ss number | (p-value) d | |||||
| 1 | rs3759501 | upstream of 5′-UTR | T>A | 0.343 | 1.0 | |
| 2 | rs3759502 | upstream of 5′-UTR | C>T | 0.337 | 1.0 | |
| 3 | rs3759503 | upstream of 5′-UTR | C>T | 0.346 | 1.0 | |
| 4 | rs3759504 | upstream of 5′-UTR | T>C | 0.323 | 0.6092 | |
| 5 | rs7990819 e | upstream of 5′-UTR | T>C | 0.044 | 1.0 | |
| 6 | rs66994812 e | upstream of 5′-UTR | C>T | 0.037 | 1.0 | |
| 7 | rs66924010 e | upstream of 5′-UTR | T>C | 0.043 | 1.0 | |
| 8 | rs71653645 f | 5′-UTR | c.-548C>T | 0.0040 | 1.0 | |
| 9 | rs71653646 f | 5′-UTR | c.-332C>T | 0.0040 | 1.0 | |
| 10 | rs16961281 | 5′-UTR | c.-225C>T | 0.067 | 0.8779 | |
| 11 | rs41281682 e | 5′-UTR | c.-17C>G | 0.043 | 1.0 | |
| 12 | rs41281680 e | exon 1 | c.129C>T | p.A43 | 0.043 | 1.0 |
| 13 | rs71640246 f | exon 1 | c.156C>T | p.N52 | 0.0080 | 1.0 |
| 14 | rs71640247 f | exon 1 | c.197G>A | p.W66X | 0.0040 | 1.0 |
| 15 | rs55971546 | exon 1 | c.292G>A | p.V98I | 0.043 | 1.0 |
| 16 | ss99307920 e, g | exon 1/intron 1 boundary | c.377+12T>C | 0.043 | 1.0 | |
| 17 | rs1329516 | exon 1/intron 1 boundary | c.377+109G>T | 0.0 | 1.0 | |
| 18 | rs9514089 | intron 1/exon 2 boundary | c.378-105A>G | 0.366 | 1.0 | |
| 19 | ss99307921 e, g | intron 1/exon 2 boundary | c.378-97A>G | 0.037 | 1.0 | |
| 20 | rs157381 | exon 2 | c.426G>A | p.P142 | 0.0 | 1.0 |
| 21 | rs60380298 e | exon 2 | c.475G>A | p.V159I | 0.043 | 1.0 |
| 22 | rs67736127 e | intron 2/exon 3 boundary | c.497-74C>A | 0.043 | 1.0 | |
| 23 | rs66842575 e | intron 2/exon 3 boundary | c.497-40A>T | 0.043 | 1.0 | |
| 24 | rs41281678 | exon 3 | c.505C>T | p.L169 | 0.031 | 0.2148 |
| 25 | rs188096 | exon 3 | c.511G>T | p.A171S | 0.142 | 0.9408 |
| 26 | - | exon 4 | c.728T>C | p.L243P | 0.0 | 1.0 |
| 27 | rs72547505 | exon 5 | c.785C>T | p.T262M | 0.0 | 1.0 |
| 28 | rs56398830 | exon 5 | c.868C>T | p.P290S | 0.02 | 1.0 |
| 29 | rs71640248 f | exon 5 | c.886T>C | p.F296L | 0.0040 | 1.0 |
| 30 | rs61966074 f | exon 5 | c.910T>C | p.F304L | 0.0080 | 1.0 |
SNPs are numbered 1–30 reflecting their sequential order on the physical map of SLC10A2 sequence.
5′-UTR = untranslated region.
aNumbering according to transcript NM_00452 including the transition initiation codon.
bNumbering according to NP_00443.1 starting at translation initiation codon.
cMinor allele frequencies (MAF) are indicated in bold.
dHardy-Weinberg equilibrium.
ePolymorphism was previously described to be associated with reduced SLC10A2-expression [32].
fNewly identified genetic variant.
grs-number is available with the next dbSNP Build, B131 (planned for November 2009).