Table I. Polymorphisms found in the present study

Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
1-1 / 1 / SLC9A2 / A(-650)G / rs3806579 / 64/26/5 / 5’region / CTGTACGTCCAGAGAATCCC(A/G)TGCCTTGTCTTGGCCTCCGC
1-2 / 2 / G(-519)C / rs7598839 / 38/40/16 / CGCACCGGGGTGTCCCCTTG(G/C)AGGAGCCTGCGGGGGCGGGG
1-3 / 3 / C(-164)T / 93/1/0 / CCGCCCTGGGCAGGGCCTGC(C/T)GCTGCGGCTGGAGAGCAGCG
1-4 / 4 / (+75179)TTTG / rs3079241 / 63/28/5 / Intron6 / ACAAACACTTCATCAGTTTG(-/TTTG)AAAATGAACTGTTTTATTGC
1-5 / 5 / TTGCAAATAAAAG(+81538-81550)- / 92/4/0 / Intron8 / TCTCTAAAGTAAGTATGGTC(TTGCAAATAAAAG/-)TTAGTATTGTTAAATAGGCA
1-6 / C(+84870)T / 93/3/0 / Exon10 / A626A / AACAGACACAGTCTGACAGC(C/T)GACACAAGTGAGAGACAAGC
1-7 / T(+85993)C / 86/1/0 / Intron10 / TTAATTATTTCAAGTTATAA(T/C)AGTTATAGCCCCTCACAAAG
1-8 / 6 / -(+86332-86653)GGCCG-AAAAA / 89/7/0 / Intron11 / CTTCATTAAGAATGAGTTCC(GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA/-)AAGAATGAGTTCCAATGAGA
1-9 / C(+88170)G / 95/1/0 / GCATTTGAAAGGACTTAGGA(C/G)AGTGCCTGGCACACAGTAAG
1-10 / C(+88180)A / 67/27/2 / GGACTTAGGACAGTGCCTGG(C/A)ACACAGTAAGTTCTTCAAAG
1-11 / 7 / T(+88410)C / 95/1/0 / CCTTGTCTTTTGCTCCGTGA(T/C)AGATGGCAATAGCAGCGACT
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
2-1 / 8 / SLC9A3 / C (-380) T / 31/43/21 / 5’region / CGGAACCGCCTGTCCCGCTG(C/T)CCCGCGCTGTGCTCCCCACG
2-2 / 9 / C (-107) G / 30/43/20 / GGCGGGGATCGGACTGTAGC(C/G)GGTACCGGCACCGGAGCGCG
2-3 / 10 / C(+453)T / 27/47/22 / Intron1 / CGGGGGCACAGCCTCGGAGC(C/T)CCGGACTCCCGGCTCCCGGG
2-4 / 11 / G(+32353)A / 95/1/0 / Exon2 / A101A / CTGGGCGGCATCGTCTGGGC(G/A)GCCGACCACATCGCGTCCTT
2-5 / 12 / C(+32622)A / 25/45/24 / Intron2 / GTGGGGTCCGGGAGGGGCGG(C/A)GCTGCCTCATCTCAGAAAGG
2-6 / 13 / G(+35673)C / 82/6/8 / GGTGGCCCCCTCGGAAGACA(G/C)CAGCCTTCCCTGGAGGGGGC
2-7 / 14 / C(+35713)T / 95/1/0 / CTGGGGGTCTGTGGGAGGGA(C/T)GCAGGAAGCTGACCCAGCTC
2-8 / 15 / C(+35858)T / 94/2/0 / Exon3 / G172G / GGCCCGGCTTGTCTTCCAGG(C/T)GACCTGCAGATTGGGCTGCT
2-9 / 16 / C(+36070)A / 94/2/0 / Intron3 / GAGCCGTGGGAGGCCTGGGC(C/A)CCGTCTCACCCCCCATCGGT
2-10 / 17 / G(+36138)A / IMS-JST060516 / 86/2/8 / TGTCCTCAAACTCCCCTCCC(G/A)GGGGCGTCCCGTCCCTCCAC
2-11 / 18 / T(+36150)C / IMS-JST060515 / 75/3/18 / CCCCTCCCGGGGGCGTCCCG(T/C)CCCTCCACCTCCTTCCTCCC
2-12 / 19 / T(+38983)C / 81/13/2 / TGCCCTGTGATGATTTTCCT(T/C)CCAACGGCCTCGGGTGCCAT
2-13 / 20 / C(+39086)- / IMS-JST076082 / 89/7/0 / AAGGACCACCCAACGCCCTG(C/-)CCGTTTTCCCTGCAGGTTCT
2-14 / C(+39087)A / IMS-JST060514 / 89/7/0 / AGGACCACCCAACGCCCTGC(C/A)CGTTTTCCCTGCAGGTTCTG
2-15 / 21 / C(+39314)T / 86/3/0 / Intron4 / GGGCCCTTCTGTCCACGTCA(C/T)GTCCCCGTCCAGAGCGATTC
2-16 / 22 / C(+39622)T / 95/1/0 / GCCGGCACGGCCACAAAGGG(C/T)GTCCTCTACCCAGTGTCCTT
2-17 / 23 / G(+39729)A / 95/1/0 / Exon5 / R283H / GCGCTTCACCAAGCATGTGC(G/A)TATCATCGAGCCCGGCTTCG
2-18 / 24 / C(+39784)T / 95/1/0 / S297S / TACCTGTCCTACCTGACGTC(C/T)GAGATGCTGTCGCTGTCGGC
2-19 / G(+39887)A / 81/14/1 / Intron5 / CACACCCTCCTGGGTCCGGC(G/A)GGGCGAGCCAGCCAGGGGGA
2-20 / T(+39950)C / 26/51/18 / CCCTCCTGGGTCCGGCGGGG(T/C)GAGCCAGCCAGGGGGACCCC
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
2-21 / SLC9A3 / -(+39974-40268)CCAGC-AGCCG / 29/52/15 / Intron5 / CCAGCCAGGGGGACCCCAAC(-/CCGAGCTTCTCCACACCCTCCTGGGTCCGGCGGGTGAGCCAGCCAGGGGGACCCCAAC)TCGGAGGGAGGTGCCAGCCG
2-22 / C(+40270)T / 23/16/3 / CAGCCAGGGGGACCCCAACT(C/T)GGAGGGAGGTGCCAGCCGCA
2-23 / 25 / G(+41085)A / IMS-JST025474 / 93/3/0 / Intron6 / GCCATCGGTGAGGCGGGGCC(G/A)GGTTGCGGCCGTGGGACCAC
2-24 / 26 / C(+41545)T / IMS-JST133081 / 80/15/1 / GGGTCCCGCGGCTGGGAGGG(C/T)GGCCGGGGAGCTGAGTGCCC
2-25 / 27 / G(+41567)A / IMS-JST133080 / 80/15/1 / GGCCGGGGAGCTGAGTGCCC(G/A)CCCCATCATCCGCAGGTGTG
2-26 / 28 / T(+41710)C / IMS-JST133078 / 80/15/1 / Exon7 / D427D / GCCCTGGTGGTGCTTCTGGA(T/C)GGAGACAAGGTCAAGGAGAA
2-27 / 29 / A(+41795)G / IMS-JST133077 / 27/51/18 / Intron7 / TCATCTTCCAGGTGAGGCCC(A/G)GCCCAGCCAGCCCTGGGGTC
2-28 / 30 / T(+46729)C / 70/11/1 / Intron10 / TGATCTCCTGGTTTTGGCAT(T/C)TCCACCCCTCCCTCTGCAGC
2-29 / 31 / C(+46757)T / IMS-JST025483 / 40/51/5 / CTCCCTCTGCAGCTGTGAGG(C/T)GTGAACCCGGGGCTCAGGTC
2-30 / 32 / C(+46809)T / IMS-JST025482 / 40/51/5 / CCCGGGCCCCGAGCTCTGGG(C/T)GCTTCCCCCCAGGGCACACA
2-31 / 33 / T(+47145)C / IMS-JST025481 / 40/51/5 / Intron11 / AGAGGGGGTGGGTGTCTCCT(T/C)CCACAAGCCCTCCTATATTA
2-32 / 34 / T(+47195)C / IMS-JST025480 / 30/55/9 / CAGACTCCCTTAGTGCTGGA(T/C)GGAAGGTGAAAGGGAGGGGC
2-33 / 35 / C(+47273)A / IMS-JST025479 / 40/49/3 / CTGGCCCGCAGCAGCCTGTC(C/A)TGGTCCCCATGCCACCCTTA
2-34 / 36 / G(+47479)A / IMS-JST039708 / 29/53/5 / GGGGAGTCAGCCTAAGCCCC(G/A)AGGGGAGAAGGGGCTGGCCA
2-35 / 37 / A(+47538)G / IMS-JST039707 / 22/57/17 / GCCCCAGCCGGGTGCCCACC(A/G)TGGGAAGGCGAGGGGCACGC
2-36 / G(+47600)A / IMS-JST039706 / 31/55/10 / GCCCGCCGTGGGAAGGCGAG(G/A)GGCGCGCAAGAGACCCCACC
2-37 / C(+47603)T / 87/8/1 / CGCCGTGGGAAGGCGAGGGG(C/T)GCGCAAGAGACCCCACCCTG
2-38 / 38 / C(+47656)T / 95/1/0 / TGGCTCAGCGCTGGTCCCCA(C/T)GCAGGAGAGAAAATGTCAGC
2-39 / G(+47917)C / IMS-JST039705 / 33/52/11 / Intron12 / GAGGGCGAGAATGTCCGGCG(G/C)TGGGCACAGCTGTGACCTCC
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
2-40 / 39 / SLC9A3 / G(+48095)A / 82/13/1 / Exon13 / A677A / CTCAACCAGAACAAGAAGGC(G/A)GCCAAGCTGTACAAGCGGGA
2-41 / 40 / G(+48553)A / 82/13/0 / Intron14 / GTTTAGCCCTCCTCTCTGTG(G/A)GTCCCGACTGCCTGCACCTC
2-42 / 41 / T(+49344)C / 39/36/10 / Exon16 / C799R / CCTACTCTCCCGGCACCTTC(T/C)GCCGCCTGATGCCCTTCCGC
2-43 / 42 / G(+49474)A / 37/35/10 / ACGCTCCCGGGCCTCCCGCC(G/A)CCTAACCCCTCTCCGCAGCT
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
3-1 / SCNN1B / G(-615)T / 381/1/0 / 5’region / TAGTGGGCACTCCAGAGGGG(G/T)CCAGAGTTCCCAATCTCGGG
3-2 / 43 / G(-597)A / 375/7/0 / GGGCCAGAGTTCCCAATCTC(G/A)GGGTGGGCTGTTTGAATTTC
3-3 / 44 / T(-443)C / 293/84/5 / CCCCTAAAGTCACCAACTTG(T/C)CCAGAGGACACTGTGTCTGC
3-4 / 45 / T(-347)C / 379/3/0 / AGGTGAACGGGACAGGTACA(T/C)GCGTGGGGTGGGATGGAGTG
3-5 / A(-301)G / 381/1/0 / ATATGTGGCTTGTGATATGT(A/G)CTGAGGGGACGTGGGGTACA
3-6 / G(-114)C / 380/2/0 / GGCGAGGGAGGTGGCCAGGG(G/C)AGCCGGGACCGTGCCGTGTG
3-7 / C(-23)G / 369/11/2 / CCCCGCCCCTGAACCTGCTC(C/G)CTCCCAGTCGGTCTCGCCGC
3-8 / C(+84)T / 381/1/0 / 5’UTR / CTCCGCCACCGCCGACAGCG(C/T)GCATCCTCCGTGTCCCCGCT
3-9 / C(+179)T / 381/1/0 / Intron1 / CGCTGCCCGGAGTCCCTGCG(C/T)GCGCGCCTTCTCCTGCCCAA
3-10 / T(+46560)C / IMS-JST095266 / 381/1/0 / Exon2 / P99P / TTCAAGACCATGGACTTCCC(T/C)GCCGTCACCATCTGCAATGC
3-11 / 46 / C(+50442)A / IMS-JST141914 / 193/156/33 / Intron2 / TCATTTGCTCTGCTTTACAG(C/A)TATGCATTCCTTCCCCCTAA
3-12 / 47 / T(+53169)C / 380/1/0 / Exon4 / R259W / GAGCTGAGCCCTGCAACTAC(T/C)GGTGAGAGCCACCCCAAGCC
3-13 / -(+65744)G / 174/168/40 / Intron5 / CAGGGTGGGACTGAGGGGGG(-/G)ACCAAGGCATCAAGAGGAGT
3-14 / C(+69105)T / rs13306633 / 381/1/0 / Exon6 / Y335Y / ATCAGAGATGAGGGCATCTA(C/T)AGCCATGTCGGGGACAGAGA
3-15 / 48 / A(+69106)G / 381/1/0 / A336T / TCAGAGATGAGGGCATCTAC(A/G)GCCATGTCGGGGACAGAGAC
3-16 / C(+69328)T / 166/174/38 / Intron7 / AGGTGAGCCCTCTGGCGCCC(C/T)CTCTGGCGCCCCCCCTGGCA
3-17 / T(+69344)- / 166/174/38 / GCCCCCTCTGGCGCCCCCCC(T/-)GGCACCTGCAGGGGTCCACA
3-18 / 49 / A(+69500)G / 381/1/0 / Exon7 / V363M / AGCCCTACAGCCCGTGCACC(A/G)TGAATGGTTCTGAGGTCCCC
3-19 / 50 / G(+69608)A / IMS-JST059727 / 170/174/37 / Intron7 / ATGCCCCGGGGCCCCTGTCC(G/A)GGTTTATGGGGCCAAGGCCT
3-20 / A(+73488)G / IMS-JST059726 / 376/6/0 / Exon8 / P407P / TGTGGCCACTACCTGTACCC(A/G)CTGCCCCGTGGGGAGAAATA
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
3-21 / SCNN1B / C(+73524)T / IMS-JST059725 / 370/12/0 / Exon8 / D419D / AAATACTGCAACAACCGGGA(C/T)TTCCCAGACTGGGGTGAGCG
3-22 / C(+73559)T / 381/1/0 / Intron8 / TGAGCGGGGGCACGGGGGAT(C/T)GGCACTCCAGCCATCTGGGG
3-23 / C(+74930)T / 380/1/0 / Intron9 / AGGAGTCCTGCAAGTGAGTG(C/T)GGGTGGGCGGGCACAGCAGC
3-24 / G(+74941)A / 380/1/0 / AAGTGAGTGCGGGTGGGCGG(G/A)CACAGCAGCGGGCAGGCATG
3-25 / 51 / C(+76418)T / 381/1/0 / Exon11 / R479W / TCCACGTCTTGTCTCAGGAG(C/T)GGGACCAAAGCACCAATATC
3-26 / G(+76518)C / 380/2/0 / Intron11 / GAAACTCGGGGCAGGAGTTTG(G/C)ACACAGGACAGCTCCTCAGA
3-27 / 52 / C(+76562)G / IMS-JST059722 / 308/63/11 / ATTCTCACATGGGTCAGACC(C/G)AGGAGCAAGTCTTGAGGAGG
3-28 / 53 / G(+77762)A / 318/49/2 / CATTAGTCCCGGCCCTTCTC(G/A)CTGCCTCCTGCAGGAAGGGAA
3-29 / C(+77763)A / 368/1/0 / CATTAGTCCCGGCCCTTCTCG(C/A)TGCCTCCTGCAGGAAGGGAA
3-30 / G(+78120)C / 381/1/0 / Exon13 / S520S / CAGATCGTCTGGCTGCTCTC(G/C)AATCTGGGTGGCCAGTTTG
3-31 / 54 / G(+78254)A / rs13306627 / 381/1/0 / R565Q / GGCCAAGAGCCTACGGCAGC(G/A)GCGAGCCCAAGCCAGCTACG
3-32 / A(+78320)G / 381/1/0 / N587I / GCTGGTGGAGGCCCACACCA(A/G)CTTTGGCTTCCAGCCTGACA
3-33 / 55 / C(+78334)T / 381/1/0 / P592S / ACACCAACTTTGGCTTCCAG(C/T)CTGACACGGCCCCCCGCAGC
3-34 / 56 / C(+78341)T / 381/1/0 / T594M / CTTTGGCTTCCAGCCTGACA(C/T)GGCCCCCCGCAGCCCCAACA
3-35 / G(+78342)A / rs13306628 / 380/2/0 / T594T / TTTGGCTTCCAGCCTGACAC(G/A)GCCCCCCGCAGCCCCAACAC
3-36 / 57 / G(+78464)A / rs13306629 / 381/1/0 / S635N / GGACGTCATCGAGTCTGACA(G/A)TGAGGGTGATGCCATCTAAC
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
4-1 / 58 / KCNJ1 / C(-2187)G / 83/12/0 / 5’region / TCTTGAGCTGAGGTTGATCC(C/G)TCCTACAATCTTGTGTGGTG
4-2 / G(-306)A / 93/1/0 / CCTGGTGCCAAAAAGGTTGG(G/A)GACTGCTGTTCTAGGGCCAC
4-3 / G(-301)A / 92/2/0 / TGCCAAAAAGGTTGGGGACT(G/A)CTGTTCTAGGGCCACTGAGT
4-4 / 59 / C(+81)T / rs2855790 / 77/17/1 / 5’UTR / GGGCCTCGGGTACCCTCACC(C/T)AGCATATCCAAACTCTTGCA
4-5 / (+232)C / 94/1/0 / Intron1 / GAAACACCTCATTGTCTCTT(-/T)TGTAGGAAAAAAGAAGTTAAT
4-6 / 60 / G(+989)T / 87/4/0 / Intron2 / TTAGCTGGGCTTACAAAATG(G/T)AGCAAAACATAGTGATTGTG
4-7 / T(+16447)C / 89/1/0 / CTGTGTGGGCCTGTCCTCTG(T/C)CTCCAGACAGTAGCCATATG
4-8 / C(+24478)T / IMS-JST091784 / 45/44/3 / Intron3 / TATGTCTGTATGTTCACCTG(C/T)TCTTTGTGAACCCTTGGAA
4-9 / 61 / T(+24653)C / IMS-JST091785 / 34/51/9 / CAATGCTGGAACCCAATCCA(T/C)GCCTGCTGCCCAGAGACCTT
4-10 / 62 / A(+27319)G / 91/5/0 / Exon5 / T67A / ACAAAATGACCATTTTCATC(A/G)CAGCCTTCTTGGGGAGTTGG
4-11 / 63 / C(+27641)T / 91/5/0 / T114M / AAAACGTGCCAAGACCATTA(C/T)GTTCAGCAAGAACGCAGTGA
4-12 / 64 / G(+27890)A / 95/1/0 / S257N / CCATGTCATTGATCACAACA(G/A)CCCTTTCTTCCACATGGCAG
4-13 / 65 / A(+28312)T / rs1231254 / 78/15/1 / 3’UTR / GAAGCATTATGAAGCAGTCA(A/T)CAATTTAGGGGTACGAAAGT
4-14 / A(+28915)G / rs673992 / 76/15/1 / ATTGGATGGCTTAAAGGGGCT(A/G)TAAATCTGTTTATAAAGAGC
4-15 / C(29250)T / rs675388 / 76/15/1 / GATCCCCACCTGCATCATTC(C/T)GAATGTGTCCTGGAAAAAAA
4-16 / C(+29284)G / rs675759 / 76/15/1 / AAAAAAACTGGTACTCAAAG(C/G)TGCTTAGGAATCAAAATGTT
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
5-1 / 66 / CLCNKB / C(-975)A / 84/52/0 / 5’region / ACAGGGTGTGGGGAGGAGGA(C/A)TTGAGCTGCGGATGTGACGC
5-2 / CGTGC(-924-8)GGTA / 72/66/0 / CACGTTGCAGGCACACGGCA(CGTGC/GGTA)TTGTTCCTCGCCATGTCCCC
5-3 / 67 / C(-663)A / 92/32/9 / GATGGGACCGTGTGGCACAG(C/A)CTGCGGGCTTTGGAGCCAGG
5-4 / T(-476)C / rs2863435 / 98/36/7 / GGGGAAGGCTGACTCTCTAC(T/C)TGGCACACAGGGAGGCTGTG
5-5 / A(-461)G / 98/36/7 / TCTACCTGGCACACAGGGAG(A/G)CTGTGGTCATGCTGGCCCCA
5-6 / TGCTC(-155-9)- / 96/36/6 / AGCTCTGCTCTGCTCTGCTC(TGCTC/-)CGGCCTGGGCAGTTCTGATC
5-7 / G(-38)T / rs868951 / 72/8/5 / GAACACACACCTGTCCAGGT(G/T)CAGGGGAGCTGGAGGCTCTG
5-8 / C(+127)T / rs945393 / 78/10/2 / Intron1 / GCACCTCACTTTGGCCCTGG(C/T)GGGATCTTCTTCTGGGCCTG
5-9 / 68 / T(+717)G / IMS-JST052374 / 65/66/9 / Exon2 / L27R / GCTGTGGGGCCCCTGTCCCC(T/G)CATCCGCCGAGGCATCCGAG
5-10 / G(+1521)C / rs6604908 / 74/59/7 / Intron2 / CTGTGTCACCACTGTCACCT(G/C)CCACAAATCCTGCCCGGCCA
5-11 / C(+1652)G / rs6604910 / 74/60/7 / AGGCCTCCAAGGATGGGACT(C/G)TCTGTGCCTCCTGCCCCACC
5-12 / G(+1933)- / rs6604911 / 58/69/14 / Intron3 / CAGCGGAGGTTGGGGGGGGG(G/-)CTCTGGGTGGGGATCTGGTC
5-13 / G(+2558)C / 75/59/0 / TTGGGGGTCTGCACCTCACT(G/C)TGTGGCCTGGTCCTCCCCTC
5-14 / A(+2696)G / 59/74/0 / Exon4 / R83G / CAGCGCACCAGTGGCTGTAC(A/G)GGGAGATTGGGGACAGCCAC
5-15 / C(+4239)T / IMS-JST031210 / 133/6/0 / Intron5 / CCCTACCCACCCCAGCCACC(C/T)CAGTCTCACCCCCATCACCC
5-16 / C(+4262)A / 138/1/0 / GTCTCACCCCCATCACCCCA(C/A)GAAAGCTGCGTCAGAGGGGA
5-17 / G(+4271)C / rs2863440 / 133/6/0 / CCATCACCCCACGAAAGCTG(G/C)GTCAGAGGGGACTTGGGCTG
5-18 / G(+4305)A / rs2902490 / 133/6/0 / TGGGCTGGTCCCTGCCTTCC(G/A)GGAACTCAGTCTTGGGGGAA
5-19 / C(+4343)T / 90/1/0 / GAAGAGGCAGGCCAGGTCCC(C/T)GGAGTGTGACAAAAGCCATC
5-20 / T(+4621)G / rs6696349 / 131/5/0 / Intron6 / TGGGGAGGGAGGGGGCTGAC(T/G)CTGAGCCCTGGACTCGGATC
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
5-21 / CLCNKB / T(+4643)C / rs1889788 / 131/5/0 / Intron6 / TGAGCCCTGGACTCGGATCC(T/C)CCAGAACAAGAGCAAGCAAA
5-22 / C(+4781)T / rs12118326 / 131/5/0 / Intron7 / TCAAGCTCCTCCCCTCACAC(C/T)CTGGGCTCCTTCGGCCCAGC
5-23 / A(+5250)T / rs13306241 / 82/8/0 / TGGAGGGCCCACCTGAGATC(A/T)GTGTCGCCCCCAGGCGTCCT
5-24 / G(+5370)A / 89/1/0 / Exon8 / A234A / TTCATGTTCCGGCTCCTGGC(G/A)GTCTTCAACAGCGAGCAGGG
5-25 / G(+5443)A / 89/1/0 / Intron8 / CCTGGGGGCCGGGGCGAGGG(G/A)GCCCTCCCTTCTCCCCTGTG
5-26 / C(+5445)A / 89/1/0 / TGGGGGCCGGGGCGAGGGGG(C/A)CCTCCCTTCTCCCCTGTGTA
5-27 / C(+5458)T / IMS-JST071252 / 89/1/0 / GAGGGGGCCCTCCCTTCTCC(C/T)CTGTGTACACCCCTTGCTCT
5-28 / G(+5487)C / rs7545067 / 132/6/0 / ACCCCTTGCTCTTCCTTTCC(G/C)TCTCTCTCCCTCTTTTTCCT
5-29 / G(+5687)C / rs13306248 / 94/2/0 / CCTGGCACCCCCTCCACCCT(G/C)GGCTGTTAGTCTGGGACTTG
5-30 / C(+6107)T / rs7368166 / 95/1/0 / Intron10 / CCTCTCAGCGAGCTCCCCCC(C/T)CACCGTACTCCCAACCTTAT
5-31 / -(+6109)C / 130/1/0 / TCTCAGCGAGCTCCCCCCTC(-/C)ACCGTACTCCCAACCTTATG
5-32 / C(+6143)G / 78/45/6 / CTTATGTAGAAAGCTCTACC(C/G)GCCACCTGAGCCCCTAAAGC
5-33 / C(+6602)T / 88/2/0 / CCTTGCTAGGCCCTGCTTCC(C/T)TCTCCTTGGGATGTGGGAAA
5-34 / G(+7126)T / rs13306237 / 86/3/0 / Exon12 / L367L / GAGCTCGACCCCCAGCACCT(G/T)TGGTGGGAATGGTACCACCC
5-35 / 69 / C(+7148)T / 88/1/0 / R375W / GGTGGGAATGGTACCACCCG(C/T)GGTTCACCATCTTTGGGACC
5-36 / G(+7243)C / 87/1/0 / Intron12 / AGCTGGGACCAGCTCTGGTG(G/C)TGGTGGGGGGTACCTCATCG
5-37 / (+7254)G / 130/6/0 / GCTCTGGTGGTGGTGGGGGG(-/G)TACCTCATCGCAGCTGGTGG
5-38 / C(+7519)T / rs6650116 / 133/6/0 / GTGGGTGCATGGCCGGCACC(C/T)TCTTTCTCTCTAGGACACTC
5-39 / 70 / CA(+7648-7649)TG / rs6650118,
rs6650119 / 132/6/0 / Exon13 / TI398TV / ATGCTGATTCTGGCCACCAC(CA/TG)TCCCCATGCCTGCCGGGTA
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
5-40 / CLCNKB / A(+7742)G / 131/5/0 / Intron13 / TTCGGGGTTCTTGGGGCAGG(A/G)CCATGGCTCCTGGTTCACCC
5-41 / C(+7748)G / 5/128/0 / GTTCTTGGGGCAGGACCATG(C/G)CTCCTGGTTCACCCTCCCCA
5-42 / C(+7749)A / 5/128/0 / TTCTTGGGGCAGGACCATGG(C/A)TCCTGGTTCACCCTCCCCAG
5-43 / A(+7895)G / 107/27/0 / Exon14 / I427V / TTGGGGAGACTCTCTCTTTT(A/G)TCTTCCCTGAGGGCATCGTG
5-44 / 71 / G(+8503)A / 87/2/0 / Exon15 / V504I / CCTCCTTCTATGATGGCACC(G/A)TCATTGTCAAGAAGCTGCCA
5-45 / 72 / C(+8522)T / 88/1/0 / P510L / CGTCATTGTCAAGAAGCTGC(C/T)ATACCTGCCACGGATTCTGG
5-46 / -(+8586)A / 88/1/0 / Intron15 / CCCACCTCAGGCTGACTGAA(-/A)GGGGGTCACAGTGTTTGGGA
5-47 / -(+8672)G / 65/23/0 / GA䁃CTCGGACATGGGGGCTG(-/G)ACACACAGCTGTGCTCTGTT
5-48 / T(+9783)C / 93/3/0 / GGGAGCCCCTCTGCCTGCAG(T/C)TCCCACCGCGTGAGGGTGGA
5-49 / 73 / C(+9845)T / rs5253 / 102/32/5 / Exon16 / T542M / CACCACACTGGCCAAGGACA(C/T)GCCACTGGAGGAGGTGGTCA
5-50 / G(+9892)A / rs2275166 / 100/34/5 / E558K / TGACCTCCACAGACGTGGCC(G/A)AGTATCCCCTGGTGGAGAGC
5-51 / T(+9901)C / rs2275167 / 137/22/5 / L561L / CAGACGTGGCCAAGTATCCC(T/C)TGGTGGAGAGCACAGGTGCC
5-52 / T(+10052)A / IMS-JST071257 / 102/33/4 / Intron16 / TGTGACCTTGGGCAAGTCAC(T/A)TCACCTGAGCCTCAGTTTCC
5-53 / A(+11441)T / 105/32/5 / CTCTGAGCCAAAGTTTCCTG(A/T)CCTTTATAATGGGTGACAAT
5-54 / 74 / T(+11465)C / 99/30/5 / TTATAATGGGTGACAATAGT(T/C)ACAATAGCCCCATAGGAACA
5-55 / T(+11735)C / IMS-JST052376 / 95/33/4 / Intron17 / GGAATGGGAGGAGAGGGGCC(T/C)GCTGATATCCTGAGGGAGAG
5-56 / T(+12604)C / 87/3/0 / Exon19 / L636L / CTGTTGAACCTTCATTCCCT(T/C)TTTGTGACGTCGCGGGGCAG
5-57 / A(+12734)G / 90/1/0 / 3’UTR / GGGGAGGTGGGGTGGGGGGG(A/G)CACCAGCATGCTCCCATCCA
5-58 / C(+12985)G / 101/36/0 / AACCTCCTCTACATCCCCCC(C/G)CACCTCCACCCCCTTTCTCT
5-59 / 75 / A(+13067)C / rs10803415 / 35/99/3 / GAAACAGGGCACCCCAGCTG(A/C)CCTGGTACTGAGGTTGGGCT
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
5-60 / CLCNKB / A(+13223)T / rs1057841 / 56/83/0 / 3’UTR / AGCCCAGAAGAGGATGGCTC(A/T)TCCTGGGTGGGACGATGGCT
5-61 / G(+13230)T / rs1057844 / 40/99/0 / AAGAGGATGGCTCATCCTGG(G/T)TGGGACGATGGCTCCTGCCT
5-62 / A(+13254)G / rs1057845 / 15/76/0 / GACGATGGCTCCTGCCTTGA(A/G)AGACAAAAATCCCACCTTGG
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
6-1
6-2
6-3 / SLC12A3 / T(-1551)A,
A(-1547)T,
G(-1530)A / 137/52/0,
141/48/0,
184/5/0 / 5’region / GACTAATGTGTGTGTGTGTG(T/A)GAG(A/T)GTGTGTGTGTGTGTGT(G/A)TATATATACACATCTTTTTA
6-4 / 76 / G(-950)A / 96/82/10 / TTTGTATTTTTAATAGAGAC(G/A)GGGTTTCACCATGTTGGCCA
6-5 / 77 / C(-605)T / 171/17/0 / TAGAAATGCACTTTGAAAAT(C/T)CCTGTCCTGTTTTGTTCCAA
6-6 / 78 / T(-544)- / 186/4/0 / GCCCCCAGTCACGTACCCCC(T/-)GCTTGCTCAATCAATCACGA
6-7 / 79 / G(-419)A / 189/1/0 / GAGTCTTGCCGATGCCCCCC(G/A)GCCGAATAAACCCCTTCCTT
6-8 / 80 / C(-213)G / 171/19/0 / AGGACTCAGGGAGTGGCTGG(C/G)TTTGGGCCAGCCCAGCCCTC
6-9 / T(-142)C / rs4784733 / 96/84/10 / ATCAAATGGTGTTCTGCCTC(T/C)GGCCCTGTCCGGGGACCCTG
6-10 / G(-141)C / 128/56/6 / TCAAATGGTGTTCTGCCTCC(G/C)GCCCTGTCCGGGGACCCTGC
6-11 / T(+361)- / rs999662 / 183/5/0 / Intron1 / CTAACCTCTCTGAGCCTCAG(T/-)TCTGTCATCTGTGCCATGGG
6-12 / G(+393)A / IMS-JST061481 / 145/38/5 / TGCCATGGGGATGGAGGAGC(G/A)TCTTCTTCCTGGGTTGAGAG
6-13 / 81 / C(+1784)T / rs13306673 / 133/52/5 / CAGTGGGCTGGATGCAGAGA(C/T)GCCGTCCCTAGCACCCCTAC
6-14 / A(+1918)G / IMS-JST061482 / 126/57/7 / Exon2 / A122A / GGGCTGGTGGAGGGCGAGGC(A/G)GGCACCAGCAGCGAGAAGAA
6-15 / 82 / T(+2141)A / IMS-JST061483 / 156/34/0 / Intron2 / ATCAATAGACAATAGATTAA(T/A)GCCTGCCGGGGAGTAATTAG
6-16 / 83 / G(+2971)A / rs13306686 / 184/5/0 / GGTGTCCCTAGGGCCTAGGT(G/A)CTCGATACCCTGCCATAGCA
6-17 / C(+4760)T / 189/1/0 / Intron4 / GCCTCAGCTATCTCCTGCCC(C/T)GTGGGTCCTGTGGCCACCCT
6-18 / G(+5556)A / 189/1/0 / Intron6 / GGTCACGTGGAGAAGCGGGG(G/A)TTGCCAGGCCTGGGCCCTCC
6-19 / G(+5569)A / 189/1/0 / AGCGGGGGTTGCCAGGCCTG(G/A)GCCCTCCCTGGTCCTCTGCC
6-20 / C(+7348)T / 189/1/0 / Intron7 / ATCCCATGGTCAGGGGCTGC(C/T)TGCCCAGTGGGTCCCAGCAA
Table I. Continued
Number / SNP number / Gene / Polymorphisms / SNP-ID / Allele frequency
Major/Hetero/Minor / Region / Amino acid change / Sequence around SNP
6-21 / SLC12A3 / C(+7479)T / rs2229209 / 184/6/0 / Exon8 / F341F / GGTCCAGATGGCACCTTCTT(C/T)GGAATGTTCTCCATCTTCTT