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 GROUPS:

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 CHR:

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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
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FREQUENCIES

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 2

Genes:
LRRC6, SPAG1,

+ Genes associated with diseases 2

Genes at Omim

LRRC6, SPAG1,
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

LRRC6,
LRRC6 Ciliary dyskinesia, primary 19

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

LRRC6
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 20162-01-01_s17-kopie 8 rs2293979
dbSNP Clinvar 		133637659 6205.66 G A PASS 0/1 562 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48622 0.48620 0.44180 0.21 0.00 None None None None None None LRRC6|0.037895735|66.48%

SPAG1
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 20162-01-01_s17-kopie 8 rs1788190
dbSNP Clinvar 		101253184 5215.86 G A PASS 0/1 510 SYNONYMOUS_CODING LOW SILENT 0.29912 0.29910 0.27211 None None None None None None SPAG1|0.055472579|61.06%
View 20162-01-01_s17-kopie 8 rs6511
dbSNP Clinvar 		101252680 10012.57 T C PASS 0/1 826 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62740 0.62740 0.36245 1.00 0.00 None None None None None None SPAG1|0.055472579|61.06%
View 20162-01-01_s17-kopie 8 rs2514681
dbSNP Clinvar 		101225559 1678.96 C G PASS 0/1 157 SYNONYMOUS_CODING LOW SILENT 0.34205 0.34210 None None None None None None SPAG1|0.055472579|61.06%
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 20162-01-01_s17-kopie 8 rs1393978
dbSNP Clinvar 		107236280 5731.96 G T PASS 1/1 211 None None None 0.60963 0.60960 None None None None None None None
View 20162-01-01_s17-kopie 8 rs3098659
dbSNP Clinvar 		101225298 1840.3 C T PASS 0/1 301 None None None 0.34006 0.34010 0.17453 None None None None None None SPAG1|0.055472579|61.06%
View 20162-01-01_s17-kopie 8 rs10090819
dbSNP Clinvar 		49628125 13270.05 T C PASS 0/1 1066 None None None 0.73762 0.73760 None None None None None None EFCAB1|0.138695847|44.58%
View 20162-01-01_s17-kopie 8 rs112114797
dbSNP Clinvar 		49627853 6356.09 A C PASS 0/1 561 None None None 0.07768 0.07768 None None None None None None EFCAB1|0.138695847|44.58%
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