SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
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
RESET FILTER | Save Config | Save Analysis

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: 9
Number of Genes: 2

Export to: CSV
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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 20160-01-01_s14-kopie 8 rs9297853
dbSNP Clinvar
133584558 4855.81 A G PASS 0/1 395 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14397 0.14400 0.16369 0.00 0.71 None None None None None None LRRC6|0.037895735|66.48%
View 20160-01-01_s14-kopie 8 rs2293979
dbSNP Clinvar
133637659 5490.72 G A PASS 1/1 206 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 20160-01-01_s14-kopie 8 rs1788190
dbSNP Clinvar
101253184 1673.01 G A PASS 0/1 211 SYNONYMOUS_CODING LOW SILENT 0.29912 0.29910 0.27211 None None None None None None SPAG1|0.055472579|61.06%
View 20160-01-01_s14-kopie 8 rs6511
dbSNP Clinvar
101252680 3452.48 T C PASS 0/1 337 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 20160-01-01_s14-kopie 8 rs2514681
dbSNP Clinvar
101225559 840.95 C G PASS 0/1 53 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 20160-01-01_s14-kopie 8 rs3098659
dbSNP Clinvar
101225298 891.81 C T PASS 0/1 128 None None None 0.34006 0.34010 0.17453 None None None None None None SPAG1|0.055472579|61.06%
View 20160-01-01_s14-kopie 8 rs10090819
dbSNP Clinvar
49628125 5992.45 T C PASS 0/1 472 None None None 0.73762 0.73760 None None None None None None EFCAB1|0.138695847|44.58%
View 20160-01-01_s14-kopie 8 rs1393978
dbSNP Clinvar
107236280 797.13 G T PASS 0/1 115 None None None 0.60963 0.60960 None None None None None None None
View 20160-01-01_s14-kopie 8 rs13281184
dbSNP Clinvar
133590719 2058.37 C T PASS 0/1 217 None None None 0.14976 0.14980 None None None None None None LRRC6|0.037895735|66.48%
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