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 CHR:

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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
IKBKB,

+ Genes associated with diseases 1

Genes at Omim

IKBKB,
IKBKB Immunodeficiency 15A, 618204 (3)
Immunodeficiency 15B, 615592 (3)

Genes at Clinical Genomics Database

IKBKB,
IKBKB Immunodeficiency 15

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

IKBKB
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 sample13_s1_s1_001_filtered_dp10_splitted 8 rs12545246
dbSNP Clinvar 		42128942 442.77 C T . 0/1 25 MOTIF[MA0079.1:SP1] LOW None 0.01937 0.01937 None None None None None None IKBKB|0.804004742|5.71%
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 sample13_s1_s1_001_filtered_dp10_splitted 6 rs150645240,rs372448696
dbSNP Clinvar 		30692293 234.73 T TG . 0/1 32 MOTIF[MA0079.1:SP1] LOW None 0.16594 0.16590 None None None None None None TUBB|0.619379241|11.1%
View sample13_s1_s1_001_filtered_dp10_splitted 17 rs12451467
dbSNP Clinvar 		62008885 108.77 C T . 0/1 26 MOTIF[MA0079.1:SP1] LOW None 0.28275 0.28270 None None None None None None CD79B|0.010369539|80.59%
View sample13_s1_s1_001_filtered_dp10_splitted 19 rs7507492
dbSNP Clinvar 		11849841 344.77 C A . 0/1 18 MOTIF[MA0079.1:SP1] LOW None 0.30212 0.30210 None None None None None None None
View sample13_s1_s1_001_filtered_dp10_splitted 2 rs831526
dbSNP Clinvar 		74153905 2263.77 C T . 1/1 65 MOTIF[MA0079.1:SP1] LOW None 0.99521 0.99520 None None None None None None None
View sample13_s1_s1_001_filtered_dp10_splitted 2 rs7579996
dbSNP Clinvar 		110371692 1272.77 C A . 0/1 104 MOTIF[MA0079.1:SP1] LOW None 0.28075 0.28080 None None None None None None SEPT10|0.098372195|51.47%
View sample13_s1_s1_001_filtered_dp10_splitted 7 rs148912236
dbSNP Clinvar 		100609138 154.73 G GA . 0/1 11 MOTIF[MA0079.1:SP1] LOW None None None None None None None MUC3A|0.001683398|91.94%
View sample13_s1_s1_001_filtered_dp10_splitted 12 rs10744785
dbSNP Clinvar 		113345256 370.77 C G . 1/1 11 MOTIF[MA0079.1:SP1] LOW None 0.71865 0.71870 None None None None None None OAS1|0.003176615|88.34%
View sample13_s1_s1_001_filtered_dp10_splitted 16 rs71402561
dbSNP Clinvar 		4784204 156.73 AC A . 0/1 27 MOTIF[MA0079.1:SP1] LOW None 0.74022 0.74020 None None None None None None ANKS3|0.043782759|64.58%
View sample13_s1_s1_001_filtered_dp10_splitted 19 rs550601112
dbSNP Clinvar 		55964546 12.96 G GCC LowQual 0/1 22 MOTIF[MA0079.1:SP1] LOW None 0.00200 0.42430 None None None None None None ISOC2|0.014818901|77.28%
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