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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
HLA-DQB1,

+ Genes associated with diseases 1

Genes at Omim

HLA-DQB1,
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 49
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

HLA-DQB1
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_62.variant24 6 rs1071637
dbSNP Clinvar 		32632688 4117.54 T A,G,C PASS 3/2 196 NON_SYNONYMOUS_CODING MODERATE None 0.23445 0.09 0.01 None None None None None None HLA-DQB1|0.132406558|45.55%
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_62.variant24 5 rs796981600
dbSNP Clinvar 		70797500 190.3 TAA T,... PASS 3/2 29 None None None None None None None None None BDP1|0.020559057|73.91%
View combined sample_62.variant24 6 rs200233226
dbSNP Clinvar 		63921250 1922.22 GAA G,... PASS 3/2 127 None None None None None None None None None None
View combined sample_62.variant24 6 rs372769301,rs71685054,rs58914911
dbSNP Clinvar 		158518875 1561.14 T TA... PASS 3/2 132 None None None None None None None None None SYNJ2|0.047685305|63.42%
View combined sample_62.variant24 7 rs201604997
dbSNP Clinvar 		19155483 545.71 CAAA C,... PASS 3/2 62 None None None None None None None None None TWIST1|0.819344932|5.34%
View combined sample_62.variant24 11 rs761980275,rs879197738,rs542894846
dbSNP Clinvar 		118757056 71.87 GAA GA... PASS 3/2 38 None None None None None None None None None CXCR5|0.087042183|53.76%
View combined sample_62.variant24 13 rs755167028
dbSNP Clinvar 		76412589 496.38 TAAA T,... PASS 3/2 23 None None None None None None None None None LMO7|0.14518442|43.69%
View combined sample_62.variant24 14 rs767361284
dbSNP Clinvar 		39554893 2434.94 TA... T,... PASS 3/2 78 None None None None None None None None None SEC23A|0.585480926|12.32%
View combined sample_62.variant24 14 rs555946397,rs57555596
dbSNP Clinvar 		104135774 602.3 AA... AA... PASS 3/2 25 None None None 0.00958 0.00959 None None None None None None KLC1|0.436707897|18.85%
View combined sample_62.variant24 15 . 48749040 786.66 CGT CG... PASS 3/2 23 None None None None None None None None None FBN1|0.938751901|2.53%
View combined sample_62.variant24 20 . 13755728 386.56 CAAA CA... PASS 3/2 16 None None None None None None None None None ESF1|0.27948169|29.14%
View combined sample_62.variant24 20 rs878948882
dbSNP Clinvar 		19867256 401.11 CTT CT... PASS 3/2 47 None None None None None None None None None RIN2|0.175081629|39.64%
View combined sample_62.variant24 20 rs142039865
dbSNP Clinvar 		50217344 1283.86 AA... AA... PASS 3/2 101 None None None None None None None None None ATP9A|0.17091233|40.18%
View combined sample_62.variant24 21 rs148015529
dbSNP Clinvar 		15663777 1087.33 AG... AG... PASS 3/2 26 None None None 0.30550 None None None None None None None
View combined sample_62.variant24 1 rs71723242
dbSNP Clinvar 		120296033 98.57 AACAC A,... PASS 3/2 11 None None None None None None None None None HMGCS2|0.077026667|55.9%
View combined sample_62.variant24 22 rs60820224
dbSNP Clinvar 		18310700 193.08 T TA... PASS 3/2 16 None None None 0.07728 0.19790 None None None None None None MICAL3|0.205641571|36.04%
View combined sample_62.variant24 1 . 170705685 2009.71 CT... CT... PASS 3/2 28 None None None None None None None None None PRRX1|0.835904001|4.95%
View combined sample_62.variant24 2 rs139782680,rs3217488
dbSNP Clinvar 		214015179 247.68 C CC... PASS 3/2 28 None None None None None None None None None IKZF2|0.914200502|3.13%
View combined sample_62.variant24 6 rs199698020
dbSNP Clinvar 		21597753 464.9 CT... C,... PASS 3/2 22 None None None None None None None None None SOX4|0.342126623|24.67%
View combined sample_62.variant24 11 . 60778650 1534.77 CGT CG... PASS 3/2 144 None None None None None None None None None CD6|0.006908987|83.59%
View combined sample_62.variant24 11 rs879125493
dbSNP Clinvar 		82959338 899.63 TA... TA... PASS 3/2 69 None None None None None None None None None ANKRD42|0.200143313|36.74%
View combined sample_62.variant24 12 rs757184808
dbSNP Clinvar 		6551618 363.23 CAAA C,... PASS 3/2 25 None None None None None None None None None None
View combined sample_62.variant24 17 rs573904022
dbSNP Clinvar 		17714717 588.59 GAAA GA... PASS 3/2 53 None None None None None None None None None RAI1|0.119478135|47.54%,SREBF1|0.208630723|35.75%
View combined sample_62.variant24 17 rs10626911,rs397961735
dbSNP Clinvar 		80152185 526.52 C CT... PASS 3/2 24 None None None 0.25100 0.25100 None None None None None None CCDC57|0.000772577|96.85%
View combined sample_62.variant24 18 rs59569925
dbSNP Clinvar 		55216656 883.38 T TT... PASS 3/2 162 None None None 0.76837 0.76840 None None None None None None FECH|0.29146554|28.28%
View combined sample_62.variant24 19 rs869075837
dbSNP Clinvar 		41403129 82.52 CAAA C,... PASS 3/2 23 None None None None None None None None None None
View combined sample_62.variant24 19 . 50815559 309.84 CTG CT... PASS 3/2 37 None None None None None None None None None KCNC3|0.018434583|75%
View combined sample_62.variant24 20 rs3835237
dbSNP Clinvar 		271225 2125.64 T TT... PASS 3/2 83 None None None None None None None None None C20orf96|0.00266282|89.34%
View combined sample_62.variant24 21 rs71326617,rs11404455,rs35392556
dbSNP Clinvar 		37414194 596.12 C CA... PASS 3/2 25 None None None None None None None None None SETD4|0.031167746|68.91%
View combined sample_62.variant24 2 rs75984373,rs35508970
dbSNP Clinvar 		46583281 598.88 C CC... PASS 3/2 14 None None None 0.00100 0.00100 None None None None None None EPAS1|0.56101019|13.31%
View combined sample_62.variant24 3 rs755938155
dbSNP Clinvar 		64636543 766.52 CTT CT... PASS 3/2 283 None None None None None None None None None ADAMTS9|0.249096385|31.58%
View combined sample_62.variant24 3 . 109049147 97.73 CA... CA... PASS 3/2 12 None None None None None None None None None DPPA4|0.001219572|94.35%
View combined sample_62.variant24 5 . 98205326 589.02 GC... GC... PASS 3/2 29 None None None None None None None None None CHD1|0.573996389|12.85%
View combined sample_62.variant24 5 rs796396539
dbSNP Clinvar 		122359502 2020.01 AAC AA... PASS 3/2 77 None None None None None None None None None SNX24|0.577823246|12.68%,PPIC|0.174152283|39.77%
View combined sample_62.variant24 7 rs200862047
dbSNP Clinvar 		36894143 141.73 CAAA CA... PASS 3/2 36 None None None None None None None None None ELMO1|0.496832668|16%
View combined sample_62.variant24 9 rs200384118,rs796708628
dbSNP Clinvar 		114306628 2113.85 ATG AT... PASS 3/2 74 None None None None None None None None None ZNF483|0.009900013|80.92%
View combined sample_62.variant24 10 . 11791772 229.09 CT... CT... PASS 3/2 14 None None None None None None None None None ECHDC3|0.029496468|69.61%
View combined sample_62.variant24 11 rs780191912
dbSNP Clinvar 		10820663 625.11 TAAA TA... PASS 3/2 58 None None None None None None None None None EIF4G2|0.917901893|3.03%
View combined sample_62.variant24 11 . 47610271 638.29 AG... AG... PASS 3/2 37 None None None None None None None None None FAM180B|0.044632193|64.28%
View combined sample_62.variant24 11 rs200520008
dbSNP Clinvar 		93211879 808.62 GC... GC... PASS 3/2 23 None None None None None None None None None SMCO4|0.424382303|19.38%
View combined sample_62.variant24 11 . 134018850 1118.81 AA... AA... PASS 3/2 45 None None None None None None None None None JAM3|0.122059358|47.11%
View combined sample_62.variant24 12 rs71444129,rs386375847,rs373546801,rs56157528
dbSNP Clinvar 		21684460 13444.9 G GT... PASS 3/2 390 None None None 0.99521 0.99520 None None None None None None SPX|0.022462271|72.93%
View combined sample_62.variant24 13 rs754357866
dbSNP Clinvar 		28647489 812.68 GA... GA... PASS 3/2 39 None None None None None None None None None FLT3|0.691934663|8.71%
View combined sample_62.variant24 13 rs753558203
dbSNP Clinvar 		113201852 8436.02 AT... AT... PASS 3/2 323 None None None None None None None None None TUBGCP3|0.091754133|52.87%
View combined sample_62.variant24 14 rs772483828
dbSNP Clinvar 		100832065 333.23 CTTT CT... PASS 3/2 37 None None None None None None None None None WARS|0.125904071|46.48%
View combined sample_62.variant24 17 rs200688472
dbSNP Clinvar 		47486905 176.48 GT... GT... PASS 3/2 23 None None None 0.13498 0.13500 None None None None None None PHB|0.499762553|15.82%
View combined sample_62.variant24 18 rs746352162,rs869229671
dbSNP Clinvar 		9861100 1154.62 TAAA TA... PASS 3/2 108 None None None None None None None None None RAB31|0.114343487|48.41%
View combined sample_62.variant24 18 . 31432399 43.3 CT C,... PASS 3/2 133 None None None None None None None None None NOL4|0.612405612|11.38%
View combined sample_62.variant24 22 . 35812504 865.97 CT... CT... PASS 3/2 33 None None None None None None None None None MCM5|0.498576971|15.9%
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