Table 3 Summary of ABCC1 selected SNPs genotyping by HRM and comparing them with scanning results
dbSNP ID | Variant residue NM_004996.3: | Intron/amino acid residue NP_004987.2: | Observed genotypesa (n) | HWE exact test P-valueb | MAFc (genotyping) | MAFc (scanning) | Chi-square test P-valued | ||
|---|---|---|---|---|---|---|---|---|---|
R/R | R/V | V/V | |||||||
rs41395947 | c.128G > C | p.Cys43Se | 380 | 0 | 0 | 1 | -- | -- | -- |
rs2230669 | c.816G > A | p.Pro272= | 362 | 18 | 0 | 1 | (A) 0.024 | (A) 0.043 | 0.079 |
rs246221 | c.825 T > C | p.Val275 | 197 | 160 | 23 | 0.243 | (C) 0.271 | (C) 0.309 | 0.187 |
rs8187852 | c.1057G > A | p.Val353Met | 379 | 0 | 0 | 1 | -- | -- | -- |
rs35587 | c.1062 T > C | p.Asn354= | 204 | 142 | 33 | 0.247 | (C) 0.274 | (C) 0.332 | 0.044 |
rs35588 | c.1218 + 8A > G | Intron | 190 | 160 | 30 | 0.709 | (G) 0.289 | (G) 0.325 | 0.214 |
rs60782127 | c.1299G > T | p.Arg433Ser | 373 | 6 | 0 | 1 | (T) 0.008 | (T) 0.005 | 0.623 |
rs35605 | c.1684 T > C | p.Leu562= | 13 | 105 | 262 | 0.588 | (T) 0.172 | (T) 0.130 | 0.063 |
rs8187858 | c.1704C > T | p.Tyr568= | 325 | 55 | 0 | 0.242 | (T) 0.072 | (T) 0.087 | 0.374 |
rs45511401 | c.2012G > T | p.Gly671Val | 346 | 28 | 3 | 0.007 | (T) 0.045 | (T) 0.077 | 0.038 |
rs4148356 | c.2168G > A | p.Arg723Gln | 360 | 19 | 0 | 1 | (A) 0.025 | (A) 0.024 | 0.888 |
rs45517537 | c.2581G > A | p.Ala861Thr | 380 | 0 | 0 | 1 | -- | -- | -- |
rs35529209 | c.2965G > A | p.Ala989Thr | 378 | 0 | 0 | 1 | -- | -- | -- |
rs13337489 | c.3140G > C | p.Cys1047Ser | 380 | 0 | 0 | 1 | -- | -- | -- |
rs28706727 | c.3436G > A | p.Val1146Ile | 380 | 0 | 0 | 1 | -- | -- | -- |
rs2230671 | c.4002G > A | p.Ser1334= | 204 | 140 | 32 | 0.296 | (A) 0.271 | (A) 0.277 | 0.850 |
rs28364006 | c.4009A > G | p.Thr1337Ala | 380 | 0 | 0 | 1 | -- | -- | -- |