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: 18
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 mmg003343 17 rs71163918
dbSNP Clinvar
78064185 934.73 CA... C PASS 0/1 102 MOTIF[MA0058.1:Max] LOW None None None None None None None CCDC40|0.000987297|95.52%
View mmg003343 17 rs753396712
dbSNP Clinvar
78064216 1807.73 CA... C PASS 0/1 102 MOTIF[MA0058.1:Max] LOW None 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 mmg003343 8 rs4475500
dbSNP Clinvar
144660523 3218.75 A G PASS 1/1 108 MOTIF[MA0058.1:Max] MODIFIER None 1.00000 1.00000 None None None None None None NAPRT|0.033021116|68.15%
View mmg003343 16 rs11646653
dbSNP Clinvar
28922149 194.78 C T LowCoverage 1/1 8 MOTIF[MA0058.1:Max] LOW None 0.75499 0.75500 None None None None None None RABEP2|0.084786865|54.26%
View mmg003343 6 rs3828916
dbSNP Clinvar
31465915 1871.77 G C PASS 1/1 67 MOTIF[MA0058.1:Max] LOW None 0.85064 0.85060 None None None None None None MICB|0.000655639|97.5%
View mmg003343 17 rs62057050
dbSNP Clinvar
65610 370.77 G T PASS 0/1 47 MOTIF[MA0058.1:Max] LOW None 0.09205 0.09205 0.14916 None None None None None None RPH3AL|0.167504186|40.6%
View mmg003343 16 rs61764202
dbSNP Clinvar
30134679 49.77 C T LowCoverage;LowQual 0/1 5 MOTIF[MA0058.1:Max] MODIFIER None 0.36202 0.36200 None None None None None None MAPK3|0.988267401|1.15%
View mmg003343 7 rs1799768,rs1799762,rs397832688,rs397810477
dbSNP Clinvar
100769706 213.73 T TG PASS 0/1 11 MOTIF[MA0058.1:Max] LOW None 0.56849 0.56850 None None None None None None None
View mmg003343 1 rs3120045
dbSNP Clinvar
43697968 424.77 G A PASS 1/1 12 MOTIF[MA0058.1:Max] LOW None 0.46745 0.46750 None None None None None None EBNA1BP2|0.247979458|31.72%,CFAP57|0.107626694|49.67%
View mmg003343 1 rs2253831
dbSNP Clinvar
237923053 2322.77 C T PASS 1/1 80 MOTIF[MA0058.1:Max] LOW None 0.76158 0.76160 0.27402 None None None None None None RYR2|0.544008282|14.03%
View mmg003343 2 rs74369108
dbSNP Clinvar
101012179 242.77 C T PASS 0/1 38 MOTIF[MA0058.1:Max] LOW None 0.00300 0.00300 None None None None None None CHST10|0.07126412|57.15%
View mmg003343 6 rs1713862
dbSNP Clinvar
74171467 3729.77 C G PASS 1/1 122 MOTIF[MA0058.1:Max] LOW None 0.91134 0.91130 None None None None None None MTO1|0.179068486|39.12%
View mmg003343 14 rs146716172
dbSNP Clinvar
75372539 64.77 G A LowCoverage 0/1 7 MOTIF[MA0058.1:Max] LOW None 0.01178 0.01178 None None None None None None RPS6KL1|0.036234113|67.04%
View mmg003343 14 rs944001
dbSNP Clinvar
103599502 349.77 A G PASS 0/1 20 MOTIF[MA0058.1:Max] MODIFIER None 0.17891 0.17890 None None None None None None TNFAIP2|0.012866014|78.58%
View mmg003343 16 rs72523665
dbSNP Clinvar
69951847 411.73 C CCT PASS 1/1 11 MOTIF[MA0058.1:Max] LOW None 0.72644 0.72640 None None None None None None WWP2|0.488930934|16.36%
View mmg003343 20 rs172037
dbSNP Clinvar
22284374 183.78 A G LowCoverage 1/1 8 MOTIF[MA0058.1:Max] MODIFIER None 0.81729 0.81730 None None None None None None None
View mmg003343 6 rs3130456
dbSNP Clinvar
31126252 37.77 C A LowCoverage;LowQual 0/1 3 MOTIF[MA0058.1:Max] LOW None 0.61601 0.61600 None None None None None None None
View mmg003343 12 rs55828837
dbSNP Clinvar
8388505 30.77 C T LowCoverage;LowQual 0/1 5 MOTIF[MA0058.1:Max] LOW None 0.37740 0.37740 None None None None None None None
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