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Table 3 Fifteen coding variants with functionally characterized SNPs crossing the threshold (P < 10-6) for association with C3 scores

From: Implications for health and disease in the genetic signature of the Ashkenazi Jewish population

Gene Marker Chromosome Chromosome position Amino acid position Amino acid change Correlation/trend P Correlation/trend R Minor allele AJ frequency CEU frequency TSI frequency GIH frequency
CFTR rs213950 7 116986769 1408 V | M 2.29E-08 -0.155 A 0.287 0.487 0.347 0.489
ABCB1 rs1045642 7 86976581 3435   4.95E-11 -0.183 A 0.367 0.571 0.466 0.597
GSTP1 rs1138272 11 67110155 341 A | V 4.74E-08 -0.152 T 0.046 0.097 0.062 0.091
MTHFR rs1801133 1 11778965 665 A | V 6.70E-10 0.172 A 0.435 0.31 0.46 0.17
PPARG rs1801282 3 12368125 34 P | A 3.21E-09 -0.165 G 0.058 0.097 0.074 0.091
MC1R rs1805005 16 88513345 178 V | L 4.80E-16 0.227 T 0.266 0.006 0.159 0.006
PLAU rs2227564 10 75343107 422 L | P 4.82E-08 -0.152 T 0.107 0.239 0.188 0.369
PER1 rs2253820 17 7988894 2361   1.22E-11 0.188 T 0.378 0.185 0.165 0.222
ALF1 rs2269475 6 31691910 43 R | W 2.70E-08 -0.155 T 0.039 0.159 0.091 0.097
HLA-DRA rs3135391 6 32518965 402   8.47E-10 -0.171 A 0.034 0.19 0.08 0.017
SH2B3 rs3184504 12 110368991 784 W | R 1.36E-10 -0.179 C 0.365 0.555 0.472 0.869
DKK3 rs3206824 11 11942637 1003 R | G 1.44E-08 -0.158 T 0.128 0.243 0.165 0.148
LCT rs3754689 2 136307216 655 V | I 1.05E-09 0.17 T 0.466 0.102 0.402 0.29
PPARGC1A rs3755863 4 23424620 1584   4.99E-08 0.052 T 0.473 0.412 0.511 0.398
NOD2 rs2067085 16 49291359 639   9.54E-08 0.151 G 0.536 0.381 0.455 0.207
  1. AJ, Ashkenazi Jew; CEU, Northern Europe; GIH, Gujarat India; TSI, Southern Europe Tuscan.