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

CCDC40,
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)

Genes at Clinical Genomics Database

CCDC40,
CCDC40 Ciliary dyskinesia, primary, 15

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 1

Export to: CSV
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CCDC40

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 sp16_961 17 rs60684213
dbSNP Clinvar
78059889 170.12 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.10583 0.10580 0.11797 0.18 0.10 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs2289527
dbSNP Clinvar
78013724 351.114 G C PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.95727 0.95730 0.00622 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs534912798
dbSNP Clinvar
78071088 109.183 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.97 0.00 0.07549 T None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs201042940
dbSNP Clinvar
78022555 39.2939 G C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.00239 0.00 0.97 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs2289531
dbSNP Clinvar
78023722 354.042 C T PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.11222 0.11220 0.09718 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs35578653
dbSNP Clinvar
78055758 255.129 T G PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.46426 0.46430 0.47895 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs4889953
dbSNP Clinvar
78064015 73.8365 G C PASS 1/1 8 None None None 0.67252 0.67250 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs12952612
dbSNP Clinvar
78071052 712.108 T C PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs56407805
dbSNP Clinvar
78073355 543.49 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.39457 0.39460 0.34773 None None None None None None CCDC40|0.000987297|95.52%
View sp16_961 17 rs2304854
dbSNP Clinvar
78073562 1488.25 A G PASS 1/1 159 SYNONYMOUS_CODING LOW None 0.50160 0.50160 0.49195 None None None None None None CCDC40|0.000987297|95.52%
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