Table 2.
No.* | SNP ID** | Region | Protein residue | dbSNP (rs) | Population*** | n | Allele frequency (%) | No. | SNP ID | Region | Protein residue | dbSNP (rs) | Population | n | Allele frequency (%) | ||
C | T | C | T | ||||||||||||||
SNPu1 | 5'UTR/-51 C>T | 5'UTR | - | - | CH | 36 | 100.00 | 0.00 | SNPe4 | E8/825 T>C | Exon 8 | Val>Val | rs246221 | CH | 36 | 36.11 | 63.89 |
ML | 35 | 98.57 | 1.43 | ML | 35 | 24.29 | 75.71 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 11.43 | 88.57 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 13.89 | 86.11 | ||||||||||
C | T | C | T | ||||||||||||||
SNPu2 | 5'UTR/-46 C>T | 5'UTR | - | - | CH | 36 | 100.00 | 0.00 | SNPe5 | E9/1062 T>C | Exon 9 | Asn>Asn | rs35587 | CH | 36 | 38.89 | 61.11 |
ML | 35 | 98.57 | 1.43 | ML | 35 | 40.00 | 60.00 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 20.00 | 80.00 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 31.94 | 68.06 | ||||||||||
C | T | A | G | ||||||||||||||
SNPe1 | E2/218 C>T | Exon 2 | Thr>Ile | - | CH | 36 | 98.61 | 1.39 | SNPi11 | I9/8 A>G | Intron 9 | - | rs35588 | CH | 36 | 61.11 | 38.89 |
ML | 35 | 97.14 | 2.86 | ML | 35 | 60.00 | 40.00 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 80.00 | 20.00 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 68.06 | 31.94 | ||||||||||
A | G | A | G | ||||||||||||||
SNPi1 | I2/26 G>A | Intron 2 | - | rs8187843 | CH | 36 | 0.00 | 100.00 | SNPi12 | I9/79 G>A | Intron 9 | - | - | CH | 36 | 0.00 | 100.00 |
ML | 35 | 0.00 | 100.00 | ML | 35 | 0.00 | 100.00 | ||||||||||
IN | 35 | 1.43 | 98.57 | IN | 35 | 1.43 | 98.57 | ||||||||||
CAU | 35 | 7.14 | 92.86 | CAU | 36 | 0.00 | 100.00 | ||||||||||
A | T | G | T | ||||||||||||||
SNPi2 | I2/-151 A>T | Intron 2 | - | - | CH | 36 | 98.61 | 1.39 | SNPe6 | E10/1299 G>T | Exon 10 | Arg>Ser | - | CH | 36 | 100.00 | 0.00 |
ML | 35 | 100.00 | 0.00 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 100.00 | 0.00 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 98.61 | 1.39 | ||||||||||
G | T | C | T | ||||||||||||||
SNPi3 | I2/-93 G>T | Intron 2 | - | - | CH | 36 | 100.00 | 0.00 | SNPi13 | I10/64 C>T | Intron 10 | - | rs28363993 | CH | 36 | 100.00 | 0.00 |
ML | 35 | 100.00 | 0.00 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 98.57 | 1.43 | IN | 35 | 97.14 | 2.86 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 100.00 | 0.00 | ||||||||||
C | G | A | C | ||||||||||||||
SNPi4 | I2/-33 C>G | Intron 2 | - | - | CH | 36 | 100.00 | 0.00 | SNPi14 | I10/91 C>A | Intron 10 | - | - | CH | 36 | 0.00 | 100.00 |
ML | 35 | 98.57 | 1.43 | ML | 35 | 1.43 | 98.57 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 4.29 | 95.71 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 0.00 | 100.00 | ||||||||||
G | T | C | T | ||||||||||||||
SNPi5 | I3/-288 T>G | Intron 3 | - | rs4148335 | CH | 36 | 2.78 | 97.22 | SNPi15 | I11/-95 T>C | Intron 11 | - | - | CH | 36 | 1.39 | 98.61 |
ML | 34 | 1.47 | 98.53 | ML | 35 | 0.00 | 100.00 | ||||||||||
IN | 35 | 15.71 | 84.29 | IN | 35 | 0.00 | 100.00 | ||||||||||
CAU | 34 | 14.71 | 85.29 | CAU | 36 | 0.00 | 100.00 | ||||||||||
A | C | A | G | ||||||||||||||
SNPi6 | I3/-196 A>C | Intron 3 | - | rs4148336 | CH | 36 | 97.22 | 2.78 | SNPi16 | I11/-78 G>A | Intron 11 | - | rs35595 | CH | 36 | 20.83 | 79.17 |
ML | 35 | 98.57 | 1.43 | ML | 35 | 27.14 | 72.86 | ||||||||||
IN | 35 | 84.29 | 15.71 | IN | 35 | 11.43 | 88.57 | ||||||||||
CAU | 36 | 84.72 | 15.28 | CAU | 36 | 13.89 | 86.11 | ||||||||||
C | T | C | T | ||||||||||||||
SNPi7 | I3/-66 T>C | Intron 3 | - | rs4148337 | CH | 36 | 40.28 | 59.72 | SNPi17 | I11/-48 C>T | Intron 11 | - | rs3765129 | CH | 36 | 88.89 | 11.11 |
ML | 35 | 44.29 | 55.71 | ML | 35 | 91.43 | 8.57 | ||||||||||
IN | 35 | 48.57 | 51.43 | IN | 35 | 97.14 | 2.86 | ||||||||||
CAU | 35 | 74.29 | 25.71 | CAU | 36 | 90.28 | 9.72 | ||||||||||
A | G | C | T | ||||||||||||||
SNPe2 | E6/651 G>A | Exon 6 | Ser>Ser | - | CH | 36 | 0.00 | 100.00 | SNPi18 | I12/56 C>T | Intron 12 | - | rs17265551 | CH | 35 | 98.57 | 1.43 |
ML | 35 | 0.00 | 100.00 | ML | 35 | 98.57 | 1.43 | ||||||||||
IN | 35 | 2.86 | 97.14 | IN | 35 | 94.29 | 5.71 | ||||||||||
CAU | 36 | 0.00 | 100.00 | CAU | 36 | 97.22 | 2.78 | ||||||||||
G | T | C | T | ||||||||||||||
SNPi8 | I7/31 G>T | Intron 7 | - | rs8187850 | CH | 35 | 100.00 | 0.00 | SNPi19 | I12/-143 C>T | Intron 12 | - | - | CH | 31 | 100.00 | 0.00 |
ML | 34 | 100.00 | 0.00 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 98.57 | 1.43 | IN | 35 | 98.57 | 1.43 | ||||||||||
CAU | 36 | 98.61 | 1.39 | CAU | 36 | 98.61 | 1.39 | ||||||||||
A | C | A | G | ||||||||||||||
SNPi9 | I7/54 C>A | Intron 7 | - | rs903880 | CH | 34 | 1.47 | 98.53 | SNPi20 | I12/-85 G>A | Intron 12 | - | rs4148348 | CH | 36 | 8.33 | 91.67 |
ML | 34 | 2.94 | 97.06 | ML | 35 | 4.29 | 95.71 | ||||||||||
IN | 35 | 20.00 | 80.00 | IN | 35 | 5.71 | 94.29 | ||||||||||
CAU | 36 | 13.89 | 86.11 | CAU | 36 | 8.33 | 91.67 | ||||||||||
C | G | A | G | ||||||||||||||
SNPi10 | I7/64 C>G | Intron 7 | - | rs246232 | CH | 34 | 61.76 | 38.24 | SNPi21 | I12/-37 A>G | Intron 12 | - | rs35604 | CH | 36 | 83.33 | 16.67 |
ML | 34 | 72.06 | 27.94 | ML | 35 | 85.71 | 14.29 | ||||||||||
IN | 35 | 65.71 | 34.29 | IN | 35 | 57.14 | 42.86 | ||||||||||
CAU | 35 | 80.00 | 20.00 | CAU | 36 | 79.17 | 20.83 | ||||||||||
A | G | C | T | ||||||||||||||
SNPe3 | E8/816 G>A | Exon 8 | Pro>Pro | rs2230669 | CH | 36 | 2.78 | 97.22 | SNPe7 | E13/1684 C>T | Exon 13 | Leu>Leu | rs35605 | CH | 36 | 83.33 | 16.67 |
ML | 35 | 0.00 | 100.00 | ML | 35 | 85.71 | 14.29 | ||||||||||
IN | 35 | 0.00 | 100.00 | IN | 35 | 57.14 | 42.86 | ||||||||||
CAU | 36 | 0.00 | 100.00 | CAU | 36 | 80.56 | 19.44 | ||||||||||
C | T | C | T | ||||||||||||||
No. | SNP ID | Region | Protein residue | dbSNP (rs) | Population | n | Allele frequency (%) | No. | SNP ID | Region | Protein residue | dbSNP (rs) | Population | n | Allele frequency (%) | ||
SNPe8 | E13/1704 C>T | Exon 13 | Tyr>Tyr | rs8187858 | CH | 36 | 100.00 | 0.00 | SNPi28 | I20/-31 C>T | Intron 20 | - | - | CH | 36 | 100.00 | 0.00 |
ML | 35 | 100.00 | 0.00 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 95.71 | 4.29 | IN | 35 | 100.00 | 0.00 | ||||||||||
CAU | 36 | 98.61 | 1.39 | CAU | 36 | 98.61 | 1.39 | ||||||||||
C | G | C | T | ||||||||||||||
SNPi22 | I13/33 I13/33 | Intron 13 | - | - | CH | 36 | 0.00 | 100.00 | SNPe17 | E21/2793 C>T | Exon 21 | Thr>Thr | - | CH | 36 | 100.00 | 0.00 |
ML | 35 | 0.00 | 100.00 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 1.43 | 98.57 | IN | 35 | 98.57 | 1.43 | ||||||||||
CAU | 36 | 0.00 | 100.00 | CAU | 36 | 100.00 | 0.00 | ||||||||||
A | G | C | T | ||||||||||||||
SNPe9 | E14/1898 G>A | Exon 14 | Arg>Gln | CH | 36 | 0.00 | 100.00 | SNPi29 | I21/26 T>C | Intron 21 | - | rs11075296 | CH | 36 | 0.00 | 100.00 | |
ML | 35 | 0.00 | 100.00 | ML | 35 | 0.00 | 100.00 | ||||||||||
IN | 35 | 0.00 | 100.00 | IN | 35 | 1.43 | 98.57 | ||||||||||
CAU | 36 | 1.39 | 98.61 | CAU | 36 | 0.00 | 100.00 | ||||||||||
C | T | C | T | ||||||||||||||
SNPe10 | E16/2001 C>T | Exon 16 | Ser>Ser | rs8187863 | CH | 36 | 100.00 | 0.00 | SNPi30 | I22/62 T>C | Intron 22 | - | rs3887893 | CH | 36 | 58.33 | 41.67 |
ML | 35 | 100.00 | 0.00 | ML | 35 | 52.86 | 47.14 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 47.14 | 52.86 | ||||||||||
CAU | 36 | 98.61 | 1.39 | CAU | 36 | 43.06 | 56.94 | ||||||||||
C | T | C | T | ||||||||||||||
SNPe11 | E16/2007 C>T | Exon 16 | Pro>Pro | rs2301666 | CH | 36 | 98.61 | 1.39 | SNPi31 | I22/-43 C>T | Intron 22 | - | - | CH | 35 | 91.43 | 8.57 |
ML | 35 | 100.00 | 0.00 | ML | 35 | 81.43 | 18.57 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 100.00 | 0.00 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 100.00 | 0.00 | ||||||||||
G | T | A | G | ||||||||||||||
SNPe12 | E16/2012 G>T | Exon 16 | Gly>Val | - | CH | 36 | 100.00 | 0.00 | SNPi32 | I24/211 G>A | Intron 24 | - | - | CH | 36 | 6.94 | 93.06 |
ML | 35 | 100.00 | 0.00 | ML | 35 | 4.29 | 95.71 | ||||||||||
IN | 35 | 98.57 | 1.43 | IN | 35 | 1.43 | 98.57 | ||||||||||
CAU | 36 | 97.22 | 2.78 | CAU | 36 | 0.00 | 100.00 | ||||||||||
A | G | C | T | ||||||||||||||
SNPe13 | E17/2168 G>A | Exon 17 | Arg>Gln | rs4148356 | CH | 36 | 0.00 | 100.00 | SNPi33 | I25/103 C>T | Intron 25 | - | - | CH | 36 | 100.00 | 0.00 |
ML | 35 | 2.86 | 97.14 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 0.00 | 100.00 | IN | 35 | 98.57 | 1.43 | ||||||||||
CAU | 36 | 0.00 | 100.00 | CAU | 34 | 100.00 | 0.00 | ||||||||||
C | T | C | T | ||||||||||||||
SNPe14 | E17/2217 C>T | Exon 17 | Ser>Ser | - | CH | 36 | 100.00 | 0.00 | SNPi34 | I25/114 C>T | Intron 25 | - | - | CH | 36 | 98.61 | 1.39 |
ML | 35 | 100.00 | 0.00 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 98.57 | 1.43 | IN | 35 | 100.00 | 0.00 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 34 | 100.00 | 0.00 | ||||||||||
A | G | A | G | ||||||||||||||
SNPe15 | E17/2268 G>A | Exon 17 | Gly>Gly | - | CH | 36 | 1.39 | 98.61 | SNPi35 | I25/146 G>A | Intron 25 | - | - | CH | 36 | 0.00 | 100.00 |
ML | 35 | 0.00 | 100.00 | ML | 35 | 1.43 | 98.57 | ||||||||||
IN | 35 | 0.00 | 100.00 | IN | 35 | 0.00 | 100.00 | ||||||||||
CAU | 36 | 0.00 | 100.00 | CAU | 34 | 0.00 | 100.00 | ||||||||||
A | G | C | G | ||||||||||||||
SNPi23 | I17/-168 A>G | Intron 17 | - | - | CH | 31 | 100.00 | 0.00 | SNPi36 | I26/-108 G>C | Intron 26 | - | - | CH | 36 | 0.00 | 100.00 |
ML | 35 | 97.14 | 2.86 | ML | 35 | 0.00 | 100.00 | ||||||||||
IN | 29 | 100.00 | 0.00 | IN | 35 | 2.86 | 97.14 | ||||||||||
CAU | 32 | 98.44 | 1.56 | CAU | 35 | 2.86 | 97.14 | ||||||||||
C | G | C | T | ||||||||||||||
SNPi24 | I18/-30 G>C | Intron 18 | - | rs2074087 | CH | 36 | 15.28 | 84.72 | SNPi37 | I26/-9 C>T | Intron 26 | - | - | CH | 36 | 98.61 | 1.39 |
ML | 35 | 12.86 | 87.14 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 37.14 | 62.86 | IN | 35 | 100.00 | 0.00 | ||||||||||
CAU | 36 | 18.06 | 81.94 | CAU | 35 | 100.00 | 0.00 | ||||||||||
A | G | A | G | ||||||||||||||
SNPi25 | I18/-27 G>A | Intron 18 | - | rs28363997 | CH | 36 | 0.00 | 100.00 | SNPe18 | E28/4002 G>A | Exon 28 | Ser>Ser | rs2239330 | CH | 36 | 8.33 | 91.67 |
ML | 35 | 0.00 | 100.00 | ML | 35 | 7.14 | 92.86 | ||||||||||
IN | 35 | 1.43 | 98.57 | IN | 35 | 20.00 | 80.00 | ||||||||||
CAU | 36 | 2.78 | 97.22 | CAU | 36 | 37.50 | 62.50 | ||||||||||
C | T | A | G | ||||||||||||||
SNPi26 | I19/-175 C>T | Intron 19 | - | rs4148369 | CH | 36 | 91.67 | 8.33 | SNPi38 | I28/-45 G>A | Intron 28 | - | rs212087 | CH | 36 | 18.06 | 81.94 |
ML | 35 | 91.43 | 8.57 | ML | 35 | 27.14 | 72.86 | ||||||||||
IN | 35 | 81.43 | 18.57 | IN | 35 | 38.57 | 61.43 | ||||||||||
CAU | 36 | 91.67 | 8.33 | CAU | 36 | 58.33 | 41.67 | ||||||||||
C | T | C | T | ||||||||||||||
SNPe16 | E20/2651 C>T | Exon 20 | Thr>Met | - | CH | 36 | 100.00 | 0.00 | SNPi39 | I29/-83 C>T | Intron 29 | - | - | CH | 36 | 100.00 | 0.00 |
ML | 35 | 98.57 | 1.43 | ML | 35 | 100.00 | 0.00 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 97.14 | 2.86 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 36 | 98.61 | 1.39 | ||||||||||
C | T | C | G | ||||||||||||||
SNPi27 | I20/-59 C>T | Intron 20 | - | - | CH | 36 | 100.00 | 0.00 | SNPi40 | I30/-51 G>C | Intron 30 | - | - | CH | 36 | 0.00 | 100.00 |
ML | 35 | 97.14 | 2.86 | ML | 35 | 0.00 | 100.00 | ||||||||||
IN | 35 | 100.00 | 0.00 | IN | 35 | 2.86 | 97.14 | ||||||||||
CAU | 36 | 100.00 | 0.00 | CAU | 35 | 0.00 | 100.00 |
* The numbers of SNPs are defined as SNP(SNP locates the region)(In the certain region, the consequent number of the SNP). For example, SNPu1 means the SNP is located in the untranslated region (UTR) and the first SNP in the UTR.
** SNP ID for these SNPs are defined as (Region)/(position number)(major allele)(minor allele). Region shows whether SNP is in an exon (E) or intron (I). Position number of exonic SNP is the mRNA nucleotide position using the translation start site as position 1. For intronic SNP, the position in the genomic sequence is either upstream (-) of using the 5' boundary of the immediate downstream exon as position -1, or downstream (+) using 3' boundary of the immediate upstream exon as position 1. The same principle is employed to the indel and STR. The position is specific to the first nucleotide in the genomic sequence. (reference mRNA ID:NM_004996.2).
*** CH, ML, IN and CAU represent Chinese, Malay, Indian and Caucasian, respectively.