ABCB2 p.Ile393Val
| ClinVar: |
c.1177A>G
,
p.Ile393Val
N
, Benign
|
| Predicted by SNAP2: | A: N (87%), C: N (87%), D: D (71%), E: D (95%), F: N (61%), G: N (53%), H: D (95%), K: D (71%), L: N (97%), M: N (97%), N: D (66%), P: D (66%), Q: D (63%), R: D (66%), S: N (61%), T: D (85%), V: N (87%), W: D (53%), Y: D (63%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Three hundred twenty-six genetic variations in gen... J Hum Genet. 2002;47(1):38-50. Saito S, Iida A, Sekine A, Miura Y, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y
Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.
J Hum Genet. 2002;47(1):38-50., [PMID:11829140]
Abstract [show]
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/deletion polymorphisms among the nine genes. Of the 297 SNPs, 50 were identified in the ABCB1 gene, 14 in TAP], 35 in TAP2, 48 in ABCB4, 13 in ABCB7, 21 in ABCB8, 21 in ABCB9, 13 in ABCB10, and 82 in ABCB11. Thirteen were located in 5' flanking regions, 237 in introns, 37 in exons, and 10 in 3' flanking regions. These variants may contribute to investigations of possible correlations between genotypes and disease-susceptibility phenotypes or responsiveness to drug therapy.
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No. Sentence Comment
34 Table 1A. Summary of genetic variations detected in the ABCB1 gene No. Location Positiona Genetic variation NCBI SNP ID 1 5Ј Flanking -196 T/C 2 5Ј Flanking -16 T/C 3 Intron 1 71660 A/C 4 Intron 1 80091 A/C 5 Intron 1 103126 T/C 6 Intron 1 103148 C/T 7 Intron 1 108428 A/G 8 Intron 1 112042 A/Gd 9 Exon 2 202 T/C(5ЈUTR)b,d 10 Intron 2 491 G/del 11 Intron 4 36 C/T 12 Intron 5 1596 T/C 13 Intron 7 139 T/Cb,c rs1202168 14 Intron 7 251 G/A rs1202169 15 Intron 8 1789 C/T 16 Intron 9 7225 A/G rs1922240 17 Exon 13 12 T/C(Gly412Gly)b,c,d rs2032588 18 Intron 14 24 T/C 19 Intron 14 81 C/T 20 Intron 15 38 A/G 21 Intron 17 73 A/G 22 Intron 17 472 T/Ab,c 23 Intron 18 564 G/A 24 Intron 18 2062 C/T 25 Intron 18 2293 A/G 26 Intron 20 557 G/A 27 Intron 21 24 G/A 28 Intron 21 2725 A/G 29 Intron 21 4725 A/G 30 Exon 22 196 G/T/A(893Ala/Ser/Thr)c,d rs2032582 31 Intron 22 49 T/C rs2032583 32 Intron 22 8507 T/C 33 Intron 22 8537 T/A 34 Intron 22 8565 T/C 35 Intron 22 8952 G/A 36 Intron 22 9520 A/G 37 Intron 22 9836 C/T 38 Intron 24 377 C/A 39 Intron 24 1493 A/del 40 Intron 24 1495 A/T 41 Intron 25 342 C/T 42 Intron 26 134 C/G 43 Intron 26 1043 G/A rs1922243 44 Intron 26 1272 A/G 45 Intron 26 1394 A/G 46 Intron 26 1987-1988 AAAG/ins 47 Exon 27 153 C/T(Ile1145Ile)b,c,d rs1045642 48 Intron 27 59 G/T 49 Intron 27 80 T/C 50 Intron 28 1220 A/G rs1186746 51 Intron 28 1266 G/T rs1186745 52 Exon 29 400 A/G(3ЈUTR)d rs3842 53 3Ј Flanking 264 G/A rs1055302 ABCB1, ATP-binding cassette, subfamily B, member 1; NCBI, National Center for Biotechnology Information; SNP, single-nucleotide polymorphism; UTR, untranslated region; del, deletion; ins, insertion a For SNPs in the 5Јflanking region, intron region, or 3Јflanking region, nucleotide positions are counted from the first intronic nucleotide at the exon/intron junction (for SNPs in the exon region, nucleotide positions are counted from the first exonic nucleotide at the exon/intron junction) b SNPs previously reported by Hoffmeyer et al. (2000) c SNPs previously reported by Cascorbi et al. (2001) d SNPs previously reported by Tanabe et al. (2001) Table 1B. Summary of SNPs detected in the TAP1 gene No. Location Positiona SNP NCBI SNP ID 1 5Ј Flanking -673 G/C rs1351382 2 5Ј Flanking -646 T/G rs1351383 3 5Ј Flanking -563 A/C 4 5Ј Flanking -236 G/T 5 Intron 3 408 C/T 6 Exon 4 153 A/G(Ile393Val)b,c rs1057141 7 Intron 4 289 G/T 8 Intron 4 291 C/G rs2071539 9 Intron 5 1139 C/T 10 Intron 7 375 C/T rs735883 11 Exon 11 284 G/T(3ЈUTR)b rs1057373 12 3Ј Flanking 71 G/A rs2071540 13 3Ј Flanking 129 T/C rs2071541 14 3Ј Flanking 459 G/A rs2071463 TAP1, transporter associated with antigen processing 1 b SNPs previously reported by Colonna et al. (1992) c SNP previously reported by Jackson and Capra (1993) Table 1C. Summary of genetic variations detected in the TAP2 gene No. Location Positiona Genetic variation NCBI SNP ID 1 5Ј Flanking -63 C/Tb 2 5Ј Flanking -55 G/Ab 3 Exon 1 61 T/C(5ЈUTR)b 4 Intron 1 39 G/Ab 5 Intron 1 311 A/Gb 6 Intron 2 48 G/Cb 7 Intron 3 7 G/Ab 8 Intron 3 8 G/A 9 Intron 3 265 A/Gb 10 Intron 3 1474 T/Cb rs241429 11 Intron 4 104 C/T 12 Intron 5 111 G/Ab rs241430 13 Intron 5 124 G/Ab 14 Exon 6 190 G/A(Val379Ile)b,c rs1800454 15 Exon 7 15 G/T(Gly386Gly)b 16 Intron 7 1379 G/A rs1015166 17 Intron 7 1399 G/A rs117821 18 Intron 9 168 C/T rs241436 19 Intron 10 23 C/T rs241437 20 Intron 10 87 G/A rs241438 21 Intron 10 170 A/C rs241439 22 Intron 10 219 A/G 23 Intron 10 346 G/A rs241440 24 Exon 11 17 G/A(Gly604Gly) rs241441 25 Intron 11 9 C/T rs241442 26 Intron 11 62 C/A rs241443 27 Intron 11 68 C/T rs241444 28 Intron 11 105 G/A rs241445 29 Intron 11 210 C/T rs241446 30 Intron 11 317-319 GTG/del 31 Exon 12 19 T/C(Cys651Arg) 32 Exon 12 61 A/G(Thr665Ala)c,d rs241447 33 Exon 12 127 T/C(stop687Gln)c,d rs241448 34 Exon 12 159 G/T(3ЈUTR)c,d rs241449 35 Exon 12 291 G/A(3ЈUTR) rs1871666 36 Exon 12 332 A/G(3ЈUTR) rs241451 37 Exon 12 356-357 GG/TGGTGGGGTGGA(3ЈUTR) TAP2, transporter associated with antigen processing 2 b SNPs previously reported by Jeffreys et al. (2000) c SNPs previously reported by Colonna et al. (1992) d SNPs previously reported by Powis et al. (1992) Materials and methods Exon-intron boundaries of the ABCB1, TAP1, TAP2, ABCB4, ABCB7, ABCB8, ABCB9, ABCB10, and ABCB11 genes were defined by comparing genomic sequences with mRNA sequences.
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ABCB2 p.Ile393Val 11829140:34:2402
status: NEW[hide] Genetic association analysis of TAP1 and TAP2 poly... J Hum Genet. 2011 Sep;56(9):652-9. doi: 10.1038/jhg.2011.75. Epub 2011 Jul 28. Kim JH, Park BL, Pasaje CF, Bae JS, Park JS, Park SW, Uh ST, Kim MK, Choi IS, Cho SH, Choi BW, Park CS, Shin HD
Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline.
J Hum Genet. 2011 Sep;56(9):652-9. doi: 10.1038/jhg.2011.75. Epub 2011 Jul 28., [PMID:21796142]
Abstract [show]
Aspirin exacerbated respiratory disease (AERD) induces bronchoconstriction in asthmatic patients characterized with a clinical condition of severe decline in forced expiratory volume in one second (FEV1) after ingestion of aspirin. Two genes consisting a heterodimer, transporter 1 and 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1 and TAP2) within the major histocompatibility complex (MHC) region, have been implicated in immunodeficiency and bronchiectasis development. To investigate the associations of TAP1 and TAP2 genetic polymorphisms with AERD and phenotypic FEV1 decline, a total of 43 common single-nucleotide polymorphisms (SNPs) including 12 SNPs of TAP1 and 31 SNPs of TAP2 were genotyped in 93 AERD patients and 96 aspirin-tolerant asthma controls. Interestingly, regression analysis revealed that polymorphisms and haplotypes of TAP2 were associated with FEV1 decline by aspirin provocation (P=0.002-0.04), with about twofold decline rate of FEV1 in most of minor homozygotes compared with major homozygotes. In addition, nominal evidences of association between TAP2 and AERD development were observed (P=0.02-0.04). However, TAP1 polymorphisms showed no relations to both AERD and FEV1 decline after aspirin challenge (P>0.05). Although further functional evaluations and replications are required, our preliminary findings provide supporting information that variants of TAP2 might be predisposing factors for FEV1 decline-related symptoms.
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No. Sentence Comment
12 Value significant at Po0.05 is shown in bold. Table 2 Polymorphisms of TAP1 and TAP2 investigated in this study Gene SNP ID Polymorphism Position Amino-acid change Genotype (n) MAF HWE* TAP1 rs2071481 A/G Intron AA (109) AG (60) GG (10) 0.223 0.648 rs2284190 T/C Intron TT (132) TC (50) CC (3) 0.151 0.479 rs4148880 A/G Exon Ile393Val AA (124) AG (55) GG (8) 0.190 0.549 rs2395269 T/G Intron TT (125) TG (52) GG (8) 0.184 0.391 rs12529313 A/G Intron AA (124) AG (55) GG (8) 0.190 0.549 rs2071482 G/T Intron GG (125) GT (53) TT (7) 0.181 0.643 rs735883 C/T Intron CC (78) CT (85) TT (22) 0.349 0.875 rs1800453 A/G Exon Asp697Gly AA (130) AG (48) GG (7) 0.168 0.341 rs4711312 A/G Intron AA (130) AG (48) GG (7) 0.168 0.341 rs1057373 G/T 3'UTR GG (132) GT (46) TT (7) 0.162 0.248 rs2071540 G/A 3'near GG (61) GA (94) AA (30) 0.416 0.535 rs2071541 T/C 3'near TT (127) TC (50) CC (8) 0.178 0.289 TAP2 rs3763366 C/G 5'near CC (51) CG (94) GG (44) 0.481 0.957 rs4148870 G/A Intron GG (55) GA (89) AA (43) 0.468 0.546 rs2071544 G/A Intron GG (50) GA (95) AA (44) 0.484 0.931 rs2071465 G/C Intron GG (89) GC (78) CC (19) 0.312 0.755 rs2239701 A/G Intron AA (44) GA (101) GG (42) 0.495 0.272 rs241424 C/T Intron CC (49) CT (94) TT (44) 0.487 0.934 rs3819721 G/A Intron GG (101) GA (72) AA (14) 0.267 0.814 rs241426 T/A Intron TT (74) TA (91) AA (22) 0.361 0.453 rs3819714 G/A Intron GG (63) GA (98) AA (26) 0.401 0.214 rs241429 C/T Intron CC (74) CT (86) TT (27) 0.374 0.804 rs4148871 C/T Intron CC (122) CT (62) TT (3) 0.182 0.118 rs241430 G/A Intron GG (68) GA (95) AA (25) 0.386 0.362 rs241432 A/C Intron AA (66) AC (95) CC (28) 0.399 0.512 rs4148873 G/A Exon Val379Ile GG (141) GA (43) AA (3) 0.131 0.893 rs2228397 G/T Exon Synonymous (Gly386Gly) GG (90) GT (78) TT (19) 0.310 0.730 rs241433 T/G Intron TT (63) TG (96) GG (28) 0.406 0.381 rs1015166 C/T Intron CC (99) CT (75) TT (13) 0.270 0.813 rs4576294 G/A Exon Synonymous (Asn436Asn) GG (177) GA (10) AA (0) 0.027 0.707 rs241436 C/T Intron CC (57) CT (82) TT (48) 0.476 0.098 rs241437 C/T Intron CC (52) CT (92) TT (43) 0.476 0.851 rs241438 G/A Intron GG (49) GA (91) AA (48) 0.497 0.662 rs241439 C/A Intron CC (52) CA (91) AA (44) 0.479 0.733 rs4148876 C/T Exon/intron Arg651Cys CC (132) CT (52) TT (3) 0.155 0.403 rs241454 T/C 3'UTR/intron TT (71) TC (92) CC (24) 0.374 0.492 rs10484565 G/A 3'UTR/intron GG (146) GA (38) AA (3) 0.118 0.772 rs2857101 A/G 3'UTR/intron AA (71) AG (94) GG (24) 0.376 0.407 rs13501 G/A 3'UTR/intron GG (56) GA (96) AA (35) 0.444 0.586 rs1894411 A/G 3'near/intron AA (141) AG (42) GG (5) 0.138 0.390 rs2856993 C/G 3'near/intron CC (89) CG (83) GG (15) 0.302 0.473 rs2857103 G/T 3'near/intron GG (56) GT (96) TT (35) 0.444 0.586 rs2621321 T/C 3'near TT (81) TC (88) CC (18) 0.332 0.399 Abbreviations: HWE, Hardy-Weinberg equilibrium; MAF, minor allele frequency; SNP, single-nucleotide polymorphism; UTR, untranslated region.
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ABCB2 p.Ile393Val 21796142:12:325
status: NEW54 Four non-synonymous SNPs in coding regions (Ile393Val and Asp697Gly in TAP1; Val379Ile and Arg651Cys in TAP2) were included.
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ABCB2 p.Ile393Val 21796142:54:44
status: NEW[hide] MHC loci affecting cervical cancer risk: distingui... Genes Immun. 2008 Oct;9(7):613-23. Epub 2008 Jul 24. Ivansson EL, Magnusson JJ, Magnusson PK, Erlich HA, Gyllensten UB
MHC loci affecting cervical cancer risk: distinguishing the effects of HLA-DQB1 and non-HLA genes TNF, LTA, TAP1 and TAP2.
Genes Immun. 2008 Oct;9(7):613-23. Epub 2008 Jul 24., [PMID:18650831]
Abstract [show]
Cervical cancer has been associated with specific human leukocyte antigen (HLA) haplotypes/alleles and with polymorphisms at the nearby non-HLA loci TNF, LTA, TAP1 and TAP2. Distinguishing effects of individual loci in the major histocompatibility complex (MHC) region are difficult due to the complex linkage disequilibrium (LD) pattern characterized by high LD, punctuated by recombination hot spots. We have evaluated the association of polymorphism at HLA class II DQB1 and the TNF, LTA, TAP1 and TAP2 genes with cervical cancer risk, using 1306 familial cases and 288 controls. DQB1 was strongly associated; alleles *0301, *0402 and (*)0602 increased cancer susceptibility, whereas *0501 and *0603 decreased susceptibility. Among the non-HLA loci, association was only detected for the TAP2 665 polymorphism, and interallelic disequilibrium analysis indicated that this could be due to LD with DQB1. As the TAP2 665 association was seen predominantly in non-carriers of DQB1 susceptibility alleles, we hypothesized that TAP2 665 may have an effect not attributable to LD with DQB1. However, a logistic regression analysis suggested that TAP2 665 was strongly influenced by LD with DQB1. Our results emphasize the importance of large sample sizes and underscore the necessity of examining both HLA and non-HLA loci in the MHC to assign association to the correct locus.
Comments [show]
The TAP2 A565T, which is homologous to position 507 in CFTR, does not significantly affect cervical cancer risk (see Table 2).
hegedus on 2013-03-20 18:59:52
hegedus on 2013-03-20 18:59:52
No. Sentence Comment
138 Genomic location on chr6 Minor allele frequency in controls Genotyping method LTA IntronA A/G rs909253 31648292 0.376 Inflastripa TNF À857 C/T rs1799724 31650461 0.067 TaqMan TNF À572 A/C rs4248161 31650746 0.014 TaqMan TNF À308 G/A rs1800629 31651010 0.167 Inflastripa TNF À238 G/A rs361525 31651080 0.047 Inflastripa TAP2 T665A T/C rs241447 32904729 0.244 TaqMan TAP2 R651C G/A rs4148876 32904771 0.070 TaqMan TAP2 A565T C/T rs2228396 32905787 0.112 TaqMan TAP2 V379I C/T rs1800454 32908390 0.164 TaqMan TAP1 D697G T/C rs1135216 32922953 0.167 TaqMan TAP1 I393V T/C rs1057141 32926752 0.190 TaqMan Abbreviations: HLA, human leukocyte antigen; LTA, lymphotoxin-alpha; TAP, transporter associated with antigen processing; TNF, tumor necrosis factor.
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ABCB2 p.Ile393Val 18650831:138:558
status: NEWX
ABCB2 p.Ile393Val 18650831:138:578
status: NEW[hide] SNP screening of central MHC-identified HLA-DMB as... Genes Immun. 2014 Sep;15(6):424-9. doi: 10.1038/gene.2014.42. Epub 2014 Jul 10. Aissani B, Boehme AK, Wiener HW, Shrestha S, Jacobson LP, Kaslow RA
SNP screening of central MHC-identified HLA-DMB as a candidate susceptibility gene for HIV-related Kaposi's sarcoma.
Genes Immun. 2014 Sep;15(6):424-9. doi: 10.1038/gene.2014.42. Epub 2014 Jul 10., [PMID:25008864]
Abstract [show]
The major histocompatibility complex (MHC) region on chromosome 6p21.3 is suspected to host susceptibility loci for HIV-related Kaposi's sarcoma (HIV-KS). A nested case-control study in the Multicenter AIDS Cohort Study was designed to conduct fine genetic association mapping across central MHC. Individuals co-infected with HIV-1 and human herpes virus-8 who later developed KS were defined as cases (n=354) and were matched 1:1 with co-infected KS-free controls. We report data for new independent MHC class II and III susceptibility loci. In particular, class II HLA-DMB emerged as a strong candidate, with the intronic variant rs6902982 A>G associated with a fourfold increase of risk (odds ratio (OR)=4.09; 95% confidence interval (CI)=1.90-8.80; P=0.0003). A striking multiplicative effect on the estimated risk was associated with further carriage of two non-synonymous variants, rs1800453 A>G (Asp697Gly) and rs4148880 A>G (Ile393Val), in the linked TAP1 gene (OR=10.5; 95% CI=2.54-43.6; P=0.0012). The class III susceptibility variant is moderately associated with HIV-KS and lies within a 120-kb-long haplotype (OR=1.52; 95% CI=1.01-2.28; P=0.047) formed by rs7029 A>G (GPANK1 3' untranslated region), rs1065356 G>A (LY6G6C), rs3749953 A>G (MSH5-SAPCD1 read through) and rs707926 G>A (VARS). Our data suggest that antigen processing by MHC class II molecules is a target pathway in the pathogenesis of HIV-KS.
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No. Sentence Comment
5 A striking multiplicative effect on the estimated risk was associated with further carriage of two non-synonymous variants, rs1800453 A4G (Asp697Gly) and rs4148880 A4G (Ile393Val), in the linked TAP1 gene (OR &#bc; 10.5; 95% CI &#bc; 2.54-43.6; P &#bc; 0.0012).
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ABCB2 p.Ile393Val 25008864:5:169
status: NEW38 Within 95 kb from HLA-DMB toward HLA-DR, significant but moderate associations with risk were observed with two non-synonymous SNPs in TAP1, rs1800453 A4G (Asp697Gly) (OR &#bc; 1.54; 95% &#bc; 1.09-2.18; P &#bc; 0.014) and rs4148880 A4G (Ile393Val) (OR &#bc; 1.45; 95% CI &#bc; 1.05-1.99; P &#bc; 0.024), and with rs2071541 A4G, a SNP located in the overlapping microRNA TAPSAR1 (OR &#bc; 1.60; 95% CI &#bc; 1.11-2.32; P &#bc; 0.012).
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ABCB2 p.Ile393Val 25008864:38:238
status: NEW61 A significant increase of risk (adjusted OR &#bc; 10.5) was associated with further carriage of non-synonymous rs1800453 (A4G) and rs4148880 (A4G) alleles encoding Asp697Gly and Ile393Val mutations in TAP1, respectively.
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ABCB2 p.Ile393Val 25008864:61:178
status: NEW64 Association of gene variants in central MHC with HIV-related Kaposi`s sarcoma in HIV-positive men enrolled in the Multicenter AIDS Cohort Study Obs Polymorphism Position Gene/closest gene Function MAF, count (%) ORa (95% CI) P-value Cases Controls 66 rs356971 (A4C) 30087776 ZNRD1-AS1 ncRNA 88 (0.14) 118 (0.19) 0.73 (0.53-0.99) 0.0422 72 rs1116221 (G4A) 30179309 TRIM31 Glu421Lys 141 (0.23) 177 (0.28) 0.74 (0.56-0.96) 0.0328 88 rs9357097 (G4A) 30393100 HCG18 Intron 185 (0.30) 157 (0.25) 1.32 (1.02-1.72) 0.0394 100 rs2429657 (A4G) 30579499 HLA-E Intergenic 119 (0.19) 152 (0.24) 0.68 (0.51-0.90) 0.0081 105 rs1076829 (A4G) 30735195 DHX16 Intron 194 (0.31) 230 (0.37) 0.76 (0.60-0.96) 0.0229 169 rs2071594 (G4C) 31620699 NFKBIL1 3`UTR 188 (0.30) 220 (0.35) 0.74 (0.58-0.96) 0.0220 170 rs2071592 (T4A) 31623319 NFKBIL1 Intron 174 (0.28) 212 (0.34) 0.70 (0.54-0.90) 0.0063 172 rs6929796 (G4A) 31630648 NFKBIL1 Intron 89 (0.14) 119 (0.19) 0.74 (0.55-0.99) 0.0444 174 rs2239707 (A4G) 31633298 NFKBIL1 Intron 217 (0.35) 189 (0.30) 1.26 (0.98-1.60) 0.0683 185 rs1800683 (G4A) 31648050 LTA 5`UTR 188 (0.30) 220 (0.35) 0.75 (0.58-0.96) 0.0223 187 rs909253 (A4G) 31648292 LTA 5` Region 188 (0.30) 220 (0.35) 0.75 (0.58-0.96) 0.0223 189 rs1041981 (C4A) 31648763 LTA Thr60Asn 188 (0.30) 220 (0.35) 0.75 (0.58-0.96) 0.0223 200 rs3093665 (A4C) 31653370 TNF 3`UTR 19 (0.03) 7 (0.01) 2.00 (0.89-4.53) 0.0965 214 rs2844477 (A4G) 31686751 AIF-1, NCR3 Intergenic 220 (0.35) 263 (0.42) 0.75 (0.59-0.96) 0.0207 221 rs7029 (A4G) 31737932 GPANK1 3`UTR 167 (0.27) 137 (0.22) 1.55 (1.17-2.05) 0.0022 224 rs1065356 (G4A) 31794987 LY6G6C cds-syn 137 (0.22) 109 (0.17) 1.60 (1.18-2.16) 0.0024 225 rs3749953 (A4G) 31821103 MSH5-SAPCD1 Intronic 92 (0.13) 76 (0.11) 1.45 (1.01-2.10) 0.0459 227 rs707926 (G4A) 31856799 VARS cds-syn 107 (0.17) 84 (0.13) 1.42 (1.03-1.97) 0.0323 264 rs3749962 (G4A) 32144335 TNXB cds-syn 41 (0.07) 60 (0.10) 0.57 (0.38-0.87) 0.0084 349 rs2071541 (A4G) 32920836 TAP1, TAPSAR1 nearGene-3 100 (0.16) 75 (0.12) 1.60 (1.11-2.32) 0.0124 350 rs1800453 (A4G) 32922953 TAP1 Asp697Gly 116 (0.19) 91 (0.14) 1.54 (1.09-2.18) 0.0136 352 rs4148880 (A4G) 32926752 TAP1 Ile393Val 143 (0,21) 117 (0.17) 1.45 (1.05-1.99) 0.0236 353 rs4713600 (C4A) 32930836 TAP1 nearGene-5 331 (0.48) 293 (0.42) 1.31 (1.04-1.66) 0.0236 355 rs9276820 (G4A) 32937254 PSMB9 Downstream 305 (0.49) 279 (0.44) 1.33 (1.06-1.67) 0.0140 356 rs1383266 (G4A) 32942710 PSMB9, HLA-DMB Intergenic 135 (0.22) 169 (0.27) 0.75 (0.58-0.97) 0.0309 359 rs2187688 (G4A) 32979979 PSMB9, HLA-DMB Intergenic 274 (0.44) 307 (0.49) 0.75 (0.59-0.96) 0.0199 367 rs151719 (A4G) 33011878 HLA-DMB Intron 161 (0.26) 121 (0.19) 1.39 (1.03-1.86) 0.0291 370 rs194675 (T4A) 33013724 HLA-DMB Intron 272 (0.44) 309 (0.49) 0.77 (0.61-0.99) 0.0383 372 rs6902982 (A4G) 33015859 HLA-DMB Intron 32 (0.05) 10 (0.02) 4.09 (1.90-8.80) 0.0003 377 rs209475 (G4A) 33033563 HLA-DMA Upstream 215 (0.35) 254 (0.41) 0.78 (0.60-1.04) 0.0533 379 rs683208 (A4G) 33045879 BRD2 nearGene-5 219 (0.35) 257 (0.41) 0.78 (0.60-1.00) 0.0539 388 rs12174395(A4G) 33122296 HLA-DPA1 Upstream 191 (0.31) 230 (0.37) 0.75 (0.59-0.97) 0.0270 389 rs375912 (A4G) 33124706 HLA-DPA1 Upstream 198 (0.32) 236 (0.38) 0.76 (0.60-0.98) 0.0319 408 rs461338 (A4G) 33326158 VPS52 3`UTR 88 (0.14) 115 (0.18) 0.66 (0.47-0.92) 0.0152 411 rs466384 (A4G) 33362643 WDR46 Val287Ala 84 (0.13) 110 (0.17) 0.64 (0.45-0.91) 0.0132 415 rs1061801 (G4A) 33390316 ZBTB22 UTR-3 123 (0.18) 150 (0.22) 0.72 (0.53-0.97) 0.0288 Abbreviations: CI, confidence interval; MAF, minor allele frequency; MHC, major histocompatibility complex; OR, odds ratio; UTR, untranslated region.
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ABCB2 p.Ile393Val 25008864:64:2156
status: NEW