SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
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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: 34
Number of Genes: 1

Export to: CSV
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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 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1140322
dbSNP Clinvar
32632578 174.77 T G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.43570 0.43570 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049086
dbSNP Clinvar
32629904 2211.77 A G PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.62580 0.62580 0.44490 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1140347
dbSNP Clinvar
32628022 641.77 A G PASS 0/1 41 SYNONYMOUS_CODING LOW None None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1130410
dbSNP Clinvar
32629170 281.77 C G PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.07768 0.07768 0.03167 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049163
dbSNP Clinvar
32629193 634.56 C T PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.37360 0.37360 0.57 0.01 -0.97 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1130429
dbSNP Clinvar
32629210 237.18 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.04393 0.04393 0.00126 0.14 0.01 2.43 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1130398
dbSNP Clinvar
32629764 666.77 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.39557 0.39560 0.33844 0.04 0.00 2.19 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049092
dbSNP Clinvar
32629802 4662.77 A G PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.62021 0.62020 0.43333 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs701564
dbSNP Clinvar
32629809 4837.77 C T PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.24082 0.24080 0.19056 0.13 0.01 0.38 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049133
dbSNP Clinvar
32629847 3302.77 A G PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.83127 0.83130 0.26119 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049130
dbSNP Clinvar
32629859 3259.77 A G PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.66554 0.66550 0.47607 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049087
dbSNP Clinvar
32629889 1408.77 G A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.45068 0.45070 0.37654 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1063323
dbSNP Clinvar
32629891 508.77 C T PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.39517 0.39520 0.32958 0.09 0.01 -0.19 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1130380
dbSNP Clinvar
32632694 699.77 C G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 1.53 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3204379
dbSNP Clinvar
32632642 2218.77 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.07728 0.07728 0.00646 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1130386
dbSNP Clinvar
32632650 3496.77 C T PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.54533 0.54530 0.46081 0.95 0.00 -0.38 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32632659 1179.35 CT TG PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1140314
dbSNP Clinvar
32632687 2653.77 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.42164 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1140313
dbSNP Clinvar
32632700 819.77 T A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -0.76 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32632714 1142.6 GCGG CC... PASS 1/2 45 SYNONYMOUS_CODING LOW None None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049083
dbSNP Clinvar
32632724 717.77 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.19429 0.19430 0.16334 0.00 0.10 3.37 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049082
dbSNP Clinvar
32632744 735.77 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.37420 0.37420 0.32630 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32632745 901.26 GCGTA ACGTC PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32632781 1042.41 AG TA PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.59 0.00 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3204373
dbSNP Clinvar
32632801 633.77 G A PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.06929 0.06929 0.00558 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1130375
dbSNP Clinvar
32632820 910.77 C G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.25959 0.25960 0.17146 0.82 0.00 -1.10 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9274407
dbSNP Clinvar
32632832 170.77 A T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.75939 0.75940 0.21826 1.00 0.00 -2.60 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs12722107
dbSNP Clinvar
32632833 404.77 A G PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.06969 0.06969 0.00551 0.38 0.00 -2.05 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs12722106
dbSNP Clinvar
32634282 87.77 A G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.06609 0.06609 0.00139 0.22 0.00 -0.40 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32634300 379.49 GT... CT... PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE None None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049058
dbSNP Clinvar
32634331 1163.29 G A,C PASS 1/2 32 SYNONYMOUS_CODING LOW None 0.37710 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 32634339 880.67 CTA GT... PASS 1/2 32 NON_SYNONYMOUS_CODING MODERATE None None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1049057
dbSNP Clinvar
32634350 1501.77 T C PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.60523 0.60520 0.42638 1.00 0.00 -1.23 None None None None None None HLA-DQB1|0.132406558|45.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9274522
dbSNP Clinvar
32634373 805.77 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.32368 0.32370 None None None None None None HLA-DQB1|0.132406558|45.55%
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