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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 2

Genes:
HLA-B, NOP9,

+ Genes associated with diseases 1

Genes at Omim

HLA-B,
HLA-B {Drug-induced liver injury due to flucloxacillin} (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)

Genes at Clinical Genomics Database

HLA-B,
HLA-B Drug-induced toxicity, susceptibility to

Genes at HGMD

Summary

Number of Variants: 42
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

HLA-B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_98.variant43 6 rs1071816
dbSNP Clinvar 		31324536 6550.62 T A,G,C PASS 2/3 292 NON_SYNONYMOUS_CODING MODERATE None 0.09824 0.34600 0.46075 0.13 0.00 None None None None None None HLA-B|0.04113834|65.4%

NOP9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_98.variant43 14 rs113258190
dbSNP Clinvar 		24769849 2155.73 A AG... PASS 2/3 70 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None NOP9|0.084378166|54.34%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_98.variant43 2 rs111584120
dbSNP Clinvar 		233429144 193.7 GT... G,... PASS 2/3 11 None None None 0.01118 0.32610 None None None None None None EIF4E2|0.568481199|13.08%
View combined sample_98.variant43 3 rs879187615
dbSNP Clinvar 		12557945 594.15 AT... AT... PASS 2/3 19 None None None None None None None None None TSEN2|0.005330655|85.38%,MKRN2OS|0.00746626|83.1%
View combined sample_98.variant43 3 rs781617751
dbSNP Clinvar 		107524962 1566.74 CAAA C,... PASS 2/3 41 None None None None None None None None None BBX|0.689204143|8.82%
View combined sample_98.variant43 3 . 158787632 1000.74 TT... TT... PASS 2/3 40 None None None None None None None None None IQCJ-SCHIP1|0.566606228|13.12%,IQCJ|0.034953162|67.49%
View combined sample_98.variant43 5 rs201319443
dbSNP Clinvar 		93388777 3377.75 TA... T,... PASS 2/3 66 None None None None None None None None None FAM172A|0.962660949|1.91%
View combined sample_98.variant43 6 rs6149483,rs61050722
dbSNP Clinvar 		24126380 2757.62 A AG... PASS 2/3 51 None None None 0.90815 0.90810 None None None None None None NRSN1|0.025256515|71.68%
View combined sample_98.variant43 7 rs879252389
dbSNP Clinvar 		25161641 145.65 CA C,... PASS 2/3 154 None None None None None None None None None CYCS|0.998873025|0.44%
View combined sample_98.variant43 9 rs781085376
dbSNP Clinvar 		139099210 1432.63 TA... TA... PASS 2/3 90 None None None None None None None None None QSOX2|0.009593559|81.17%
View combined sample_98.variant43 10 rs760189868
dbSNP Clinvar 		118641909 3602.81 TAA T,... PASS 2/3 177 None None None None None None None None None ENO4|0.087748585|53.69%
View combined sample_98.variant43 14 . 23586457 554.9 GA... GA... PASS 2/3 19 None None None None None None None None None None
View combined sample_98.variant43 14 . 73959703 693.61 CT CT... PASS 2/3 57 None None None None None None None None None HEATR4|0.005039419|85.75%
View combined sample_98.variant43 17 rs878952666
dbSNP Clinvar 		2287891 558.96 CGT CG... PASS 2/3 27 None None None None None None None None None MNT|0.851132023|4.61%
View combined sample_98.variant43 19 rs752954723
dbSNP Clinvar 		15225438 334.26 GC G,... PASS 2/3 13 None None None None None None None None None SYDE1|0.041852611|65.16%
View combined sample_98.variant43 19 rs74268449,rs398059756
dbSNP Clinvar 		44931670 3001.98 TAAA TA... PASS 2/3 111 None None None 0.10982 0.10980 None None None None None None ZNF229|0.00082353|96.52%
View combined sample_98.variant43 1 rs201543202,rs3035296,rs869082719
dbSNP Clinvar 		169572545 34.15 CT... CT... PASS 2/3 29 None None None None None None None None None SELP|0.036054627|67.11%
View combined sample_98.variant43 20 rs35822681
dbSNP Clinvar 		18469615 3606.39 G GT... PASS 2/3 59 None None None None None None None None None RBBP9|0.162729615|41.19%
View combined sample_98.variant43 2 rs762869127
dbSNP Clinvar 		86304932 479.58 GC... GC... PASS 2/3 10 None None None None None None None None None POLR1A|0.182861098|38.69%
View combined sample_98.variant43 1 . 26112414 518.21 CA CA... PASS 2/3 63 None None None None None None None None None MAN1C1|0.206581265|35.95%
View combined sample_98.variant43 1 rs886046317
dbSNP Clinvar 		241663902 991.71 TGAGA TG... PASS 2/3 54 None None None None None None None None None FH|0.513530496|15.21%
View combined sample_98.variant43 2 rs763533045,rs869152888
dbSNP Clinvar 		175264627 222.23 CT... CT... PASS 2/3 56 None None None None None None None None None SCRN3|0.337610398|24.99%
View combined sample_98.variant43 2 . 204054882 1824.72 TA... T,... PASS 2/3 45 None None None None None None None None None NBEAL1|0.307875882|27.01%
View combined sample_98.variant43 2 rs769930096
dbSNP Clinvar 		225719781 1416.07 GA... GA... PASS 2/3 33 None None None None None None None None None DOCK10|0.382989612|21.86%
View combined sample_98.variant43 7 rs70986702
dbSNP Clinvar 		31826507 561.29 TT... T,... PASS 2/3 22 None None None None None None None None None PDE1C|0.379555072|22.08%
View combined sample_98.variant43 7 rs542068592
dbSNP Clinvar 		37724967 712.94 TCCTG T,... PASS 2/3 14 None None None None None None None None None GPR141|0.009138002|81.55%,EPDR1|0.032281464|68.48%
View combined sample_98.variant43 8 rs749915839
dbSNP Clinvar 		21931141 621.83 CA... C,... PASS 2/3 12 None None None None None None None None None DMTN|0.244280445|32.06%
View combined sample_98.variant43 11 rs774963166
dbSNP Clinvar 		20680600 841.59 CA... C,... PASS 2/3 19 None None None None None None None None None SLC6A5|0.491195303|16.26%
View combined sample_98.variant43 11 rs752759263
dbSNP Clinvar 		93454831 1373.33 GG... GG... PASS 2/3 28 None None None None None None None None None CEP295|0.00978904|81%
View combined sample_98.variant43 22 . 46548035 82.69 ATTTT AT... PASS 2/3 16 None None None None None None None None None PPARA|0.743609994|7.3%
View combined sample_98.variant43 X . 53565685 428.59 ACTCT AC... PASS 2/3 14 None None None None None None None None None HUWE1|0.636259624|10.58%
View combined sample_98.variant43 4 rs33930474,rs58041287
dbSNP Clinvar 		140587261 191.86 CG... CG... PASS 2/3 23 None None None None None None None None None MGST2|0.034049931|67.77%
View combined sample_98.variant43 4 rs10664292,rs869077566,rs10683902,rs10644033
dbSNP Clinvar 		183271186 750.4 G GA... PASS 2/3 18 None None None None None None None None None TENM3|0.916849963|3.06%
View combined sample_98.variant43 5 rs879001293
dbSNP Clinvar 		153371252 367.08 ATT AT... PASS 2/3 132 None None None None None None None None None FAM114A2|0.069128376|57.7%
View combined sample_98.variant43 8 rs769653138
dbSNP Clinvar 		105264087 445.55 CA CA... PASS 2/3 27 None None None None None None None None None RIMS2|0.589624962|12.15%
View combined sample_98.variant43 10 rs199883895
dbSNP Clinvar 		6157835 633.55 TA... TA... PASS 2/3 150 None None None None None None None None None RBM17|0.330513979|25.46%
View combined sample_98.variant43 10 rs201787451,rs777659349,rs34048226
dbSNP Clinvar 		29746853 58.44 CAA CA... PASS 2/3 29 None None None 0.53574 0.53570 None None None None None None SVIL|0.030498696|69.17%
View combined sample_98.variant43 11 rs3831469,rs35667773,rs56944511
dbSNP Clinvar 		94704689 1222.84 A AA... PASS 2/3 29 None None None 0.11142 0.39320 None None None None None None CWC15|0.589318607|12.16%
View combined sample_98.variant43 15 rs756884560
dbSNP Clinvar 		89816742 310.76 TAAA TA... PASS 2/3 15 None None None None None None None None None FANCI|0.35466511|23.8%
View combined sample_98.variant43 17 rs754212503
dbSNP Clinvar 		4996470 3390.65 CTTT C,... PASS 2/3 108 None None None None None None None None None ZFP3|0.021228195|73.57%
View combined sample_98.variant43 17 rs146379347
dbSNP Clinvar 		9066464 173.89 GA... GA... PASS 2/3 12 None None None None None None None None None NTN1|0.940258305|2.47%
View combined sample_98.variant43 X rs767377015
dbSNP Clinvar 		46333090 128.82 CTTT CT... PASS 2/3 56 None None None None None None None None None KRBOX4|0.004805684|86.09%
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