| | | |
Variant allele frequency†
|
|---|
|
Region†
|
Nucleotide (amino acid) change†
|
SNP ID†
|
Korean (27 controls/27 cases)
|
Global
|
Caucasian
|
Asian
|
African American
|
|---|
|
Promoter
|
-1433C>T
|
rs17335689
|
0.00/0.00
|
0.017
|
0.00
|
0.00
|
0.042
|
| |
-1298G>A
|
rs17335696
|
0.00/0.00
|
0.006
|
0.00
|
0.00
|
0.042
|
| |
-1247G>A
|
rs6593197
|
0.00/0.00
|
-
|
0.00
|
0.00
|
0.104
|
| |
-1225G>A
|
-
|
0.00/0.00
|
-
|
0.023
|
0.00
|
0.00
|
| |
-759C>A
|
rs759171
|
0.00/0.00
|
0.101
|
0.136
|
0.00
|
0.146
|
| |
-646G>A
|
-
|
0.00/0.00
|
-
|
0.00
|
0.00
|
0.042
|
| |
-615C>G
|
rs13228815
|
0.00/0.00
|
-
|
-
|
-
|
-
|
| |
-540G>A
|
-
|
0.02/0.00
|
-
|
0.00
|
0.024
|
0.00
|
| |
-482C>A
|
rs17335710
|
0.00/0.00
|
0.006
|
0.00
|
0.00
|
0.063
|
| |
-216G>T
|
rs712829
|
0.02/0.04
|
0.222
|
0.318
|
0.071
|
0.292
|
| |
-191C>A
|
rs712830
|
0.00/0.00
|
0.078
|
0.136
|
0.00
|
0.00
|
|
Intron 1
|
169G>T
|
rs17335738
|
0.00/0.00
|
0.101
|
0.114
|
0.00
|
0.114
|
| |
2028G>A
|
-
|
0.07/0.07
|
-
|
0.023
|
0.095
|
0.042
|
|
Exon 3
|
124080G>A (R98Q)
|
rs17289589
|
0.00/0.00
|
0.006
|
-
|
-
|
-
|
|
Exon 4
|
127378C>T (N158N)
|
rs2072454
|
0.37/0.32
|
0.415
|
0.500 (0.42)‡
|
0.320
|
0.457
|
| |
127417C>T (D171D)
|
rs17289686
|
0.00/0.00
|
0.011
|
-
|
-
|
-
|
| |
127435G>A (S177S)
|
rs17336437
|
0.00/0.00
|
0.028
|
-
|
-
|
-
|
|
Intron 4
|
127473G>A IVS4+10)
|
rs7801956
|
0.00/0.02
|
0.051
|
0.070
|
0.039
|
0.008
|
|
Exon 7
|
134783C>G (P266R)
|
rs17336639
|
0.00/0.00
|
0.006
|
-
|
-
|
-
|
|
Exon 8
|
136584C>T (C307C)
|
rs17289893
|
0.00/0.00
|
0.011
|
-
|
-
|
-
|
|
Exon 9
|
137368G>A (P373P)
|
rs2302536
|
0.00/0.00
|
0.006
|
0.00
|
0.007
|
-
|
|
Exon 12
|
140880G>A (A439A)
|
rs17290005
|
0.00/0.00
|
0.022
|
-
|
-
|
-
|
|
Exon 13
|
142232C>T (G503G)
|
rs17336800
|
0.39/0.41
|
0.006
|
-
|
-
|
-
|
| |
142285G>A (R521K)
|
rs11543848
|
0.39/0.41
|
0.289
|
0.250 (0.26)‡
|
0.500
|
0.109
|
|
Exon 14
|
144456T>C (G544G)
|
rs17290103
|
0.00/0.00
|
0.022
|
-
|
-
|
-
|
|
Exon 15
|
146055T>C (V592A)
|
rs28384375
|
0.00/0.00
|
-
|
-
|
-
|
-
|
| |
146068G>A (P596P)
|
rs17290162
|
0.00/0.00
|
0.017
|
-
|
-
|
-
|
| |
146119C>T (A613A)
|
rs17290169
|
0.00/0.00
|
0.08
|
- (0.05)‡
|
-
|
-
|
| |
146151G>T (C624F)
|
rs28384376
|
0.00/0.00
|
-
|
-
|
-
|
-
|
|
Exon 16
|
151904T>A (T629T)
|
rs17337023
|
0.37/0.41
|
0.456
|
- (0.36)‡
|
- (0.446)§
|
-
|
|
Exon 17
|
153806G>A (V674I)
|
rs17337079
|
0.00/0.00
|
0.006
|
-
|
-
|
-
|
|
Exon 18
|
154737G>T (G719C)
|
rs28929495
|
0.00/0.00
|
-
|
-
|
-
|
-
|
|
Exon 20
|
162093G>A (Q787Q)
|
rs10251977
|
0.07/0.13
|
0.427
|
0.604 (0.48)‡
|
0.146
|
0.457
|
|
Exon 21
|
172480C>T (R836R)
|
rs17518376
|
0.00/0.00
|
0.011
|
0.083 (0.07)‡
|
0.00
|
0.00
|
|
Exon 23
|
179447T>C (T903T)
|
rs1140475
|
0.07/0.06
|
0.111
|
0.117 (0.13)‡
|
0.06
|
0.017
|
|
Exon 24
|
181074C>G (R962G)
|
rs17337451
|
0.00/0.00
|
0.06
|
-
|
-
|
-
|
|
Exon 25
|
181927A>C (H988P)
|
rs17290699
|
0.00/0.00
|
0.006
|
-
|
-
|
-
|
| |
181946C>T (D994D)
|
rs2293347
|
0.43/0.35
|
0.197
|
0.136
|
0.286
|
0.053
|
|
3'UTR
|
187114T>C
|
rs884225
|
0.37/0.31
|
0.869
|
0.150
|
0.475
|
0.025
|
-
† Information about SNPs, SNP ID and frequencies of variant alleles in other ethnic populations were obtained from NCBI database http://www.ncbi.nlm.nih.gov. In the reference sequence (GenBank accession no. NT_033968), the translation start site was counted as +1. In the cases of polymorphisms in the promoter and intron 1 (i.e., from -1433C>T to 2028G>A), frequencies of variant alleles in Caucasians, Asians and African Americans were obtained from Ref. 15.
-
‡ Data in the parenthesis were obtained from Ref. 14.
-
§ Datum in the parenthesis was obtained from Ref. 24.
