Table 1.
Exon | g. | c. | p. | SNP ID | CZ (644) | CZ | AJ | MJ | Hart | AA | CA | AS | ME | Gomes |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
5´-Flanking | 4849 C>A | rs72553972 | 113 | 0,175 | - | - | - | 0,026 | 0,130 | 0,078 | 0,077 | |||
5´-Flanking | 4883 C>T | rs139824475 | 3 | 0,005 | - | - | - | - | - | - | - | |||
5´-Flanking | 4965 C>T | 1 | 0,002 | - | - | - | - | - | - | - | ||||
5´-Flanking | 4994 G>T | 1 | 0,002 | - | - | - | - | - | - | - | ||||
Exon 1 | 5036 A>C | −47 A>C | rs3823884 | 159 | 0,247 | 0,224 | 0,221 | - | 0,812 | 0,266 | 0,311 | 0,377 | ||
Intron 1 | 5099 C>T | −5 +21 C>T | rs72553978 | 5 | 0,008 | - | - | - | 0,000 | 0,009 | 0,000 | 0,003 | ||
Exon 2 | 43951 C>T | 60 C>T | Ala20= | 1 | 0,002 | - | - | - | - | - | - | - | ||
Exon 2 | 43976 A>T | 85 A>T | Thr29Ser | 1 | 0,002 | - | - | - | - | - | - | - | ||
Exon 5 | 70258 A>G | 387 A>G | Pro129= | rs1135612 | 183 | 0,284 | 0,318 | 0,360 | 0,212 | 0,083 | 0,268 | 0,419 | 0,420 | 0,260 |
Intron 5 | 70943 G>A | 517 −4 G>A | rs41299496 | 1 | 0,002 | - | - | - | - | - | - | - | ||
Exon 10 | 73673 C>T | 984 C>T | Ala328= | rs72557941 | 7 | 0,011 | - | - | - | - | - | - | - | 0,007 |
Intron 10 | 74663 C>G | 1067 −13C>G | rs4732516 | 634 | 0,984 | 0,991 | 0,938 | 0,953 | 0,609 | 0,959 | 0,870 | 0,869 | ||
Exon 11 | 74721 G>A | 1112 G>A | Arg371His | 1 | 0,002 | - | - | - | - | - | - | - | ||
Exon 11 | 74760 C>T | 1151 C>T | Pro384Leu | 1 | 0,002 | - | - | - | - | - | - | - | ||
Exon 11 | 74800 G>A | 1191 G>A | Ser397= | rs72557928 | 1 | 0,002 | - | - | - | 0,000 | 0,000 | 0,003 | 0,000 | |
Exon 11 | 74809 G>A | 1200 G>A | Ser400= | 1 | 0,002 | 0,000 | 0,004 | - | - | - | - | - | ||
Intron 11 | 74869 C>T | 1248 +12C>T | rs2286822 | 222 | 0,345 | 0,385 | 0,393 | 0,359 | 0,208 | 0,319 | 0,360 | 0,407 | 0,293 | |
Intron 11 | 74877 G>A | 1248 +20G>A | rs2286823 | 221 | 0,343 | 0,382 | 0,393 | 0,374 | 0,194 | 0,317 | 0,360 | 0,407 | 0,297 | |
Exon 13 | 75534 T>C | 1455 T>C | Ala485= | rs2228104 | 632 | 0,981 | 0,991 | 0,952 | 0,923 | 0,675 | 0,967 | 0,881 | 0,868 | 0,990 |
Exon 13 | 75587 C>T | 1508 C>T | Ala503Val | rs1057868 | 173 | 0,269 | 0,294 | 0,206 | 0,219 | 0,191 | 0,264 | 0,367 | 0,310 | 0,303 |
Exon 13 | 75665 C>T | 1586 C>T | Thr529Met | 1 | 0,002 | - | - | - | - | - | - | - | ||
Exon 14 | 75868 G>A | 1716 G>A | Ser572= | rs1057870 | 222 | 0,345 | 0,306 | 0,335 | 0,309 | 0,182 | 0,378 | 0,138 | 0,132 | 0,363 |
Exon 15 | 76133 G>A | 1891 G>A | Val631Ile | rs145782750 | 1 | 0,002 | 0,000 | 0,004 | - | - | - | - | - | 0,007 |
Intron 15 | 76153 G>T | 1898 +13 G>T | rs72557956 | 1 | 0,002 | - | - | - | 0,000 | 0,008 | 0,003 | 0,003 | ||
Intron 15 | 76216 C>T | 1899 −20 C>T | 1 | 0,002 | - | - | - | - | - | - | - |
g. - Genomic position NG_008930.1
c. - Coding position NM_000941.2
p. - Amino acid change position NP_000932.3
The sign (+) represent nucleotides upstream the last base translated in the genomic sequence and the sign (−) represents nucleotides downstream the first base translated in the genomic sequence. MJ-Moroccan Jewish allele frequencies, AJ-Ashkenazi Jewish allele frequencies and AA-African American allele frequencies, CA-Caucasian American allele frequencies, AS-Chinese American allele frequencies, ME-Mexican American allele frequencies according to Huang et al. [12]. Frequency data were compiled from studies Hart et al. [34], Huang et al. [12], Gomes et al. [35], Saito et al. [36] and Tomkova et al. [37].