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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:

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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
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+ Genes 1

Genes:
CCDC40,

+ Genes associated with diseases 1

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: 9
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

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 il-full_variant_table 17 . 78064216 1953.0 CA CAA off_target 0/1 550 MOTIF[MA0058.1:Max] LOW None None None None None None CCDC40|0.000987297|95.52%
View il-full_variant_table 17 . 78064247 365.0 CAA CA low_variant_fraction;off_target 0/1 388 MOTIF[MA0058.1:Max] LOW None None None None None None CCDC40|0.000987297|95.52%
View il-full_variant_table 17 rs753396712
dbSNP Clinvar 		78064216 2597.0 CA... C off_target 0/1 550 MOTIF[MA0058.1:Max] LOW None None None None None None CCDC40|0.000987297|95.52%
View il-full_variant_table 17 rs71163918
dbSNP Clinvar 		78064185 2005.0 CA... C PASS 0/1 711 MOTIF[MA0058.1:Max] LOW None None None None None None CCDC40|0.000987297|95.52%
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 il-full_variant_table 1 rs2253831
dbSNP Clinvar 		237923053 1825.0 C T off_target 1/1 62 MOTIF[MA0058.1:Max] LOW 0.76158 0.76160 0.27402 None None None None None None RYR2|0.544008282|14.03%
View il-full_variant_table 6 rs1713862
dbSNP Clinvar 		74171467 338.0 C G off_target 0/1 34 MOTIF[MA0058.1:Max] LOW 0.91134 0.91130 None None None None None None MTO1|0.179068486|39.12%
View il-full_variant_table 22 rs56058201
dbSNP Clinvar 		50658017 1064.0 C T off_target 0/1 110 MOTIF[MA0058.1:Max] LOW 0.00180 0.00180 None None None None None None TUBGCP6|0.014651762|77.41%
View il-full_variant_table 8 rs4475500
dbSNP Clinvar 		144660523 329.0 A G low_coverage;off_target 1/1 12 MOTIF[MA0058.1:Max] MODIFIER 1.00000 1.00000 None None None None None None NAPRT|0.033021116|68.15%
View il-full_variant_table 1 rs3120045
dbSNP Clinvar 		43697968 320.0 G A low_coverage;off_target 1/1 11 MOTIF[MA0058.1:Max] LOW 0.46745 0.46750 None None None None None None EBNA1BP2|0.247979458|31.72%,CFAP57|0.107626694|49.67%
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