+ Filter Options

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 1

Genes:
CCT5,

+ Genes associated with diseases 1

Genes at Omim

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)

Genes at Clinical Genomics Database

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

CCT5
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 muestra2_s1 5 rs2578618
dbSNP Clinvar 		10250443 1590.28 T C PASS 1/1 52 START_GAINED LOW None 0.68530 0.68530 0.28195 0.00 None None None None None None CCT5|0.365250197|23.05%
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 muestra2_s1 8 rs11135695
dbSNP Clinvar 		22926498 1511.36 G A PASS 0/1 133 START_GAINED LOW None 0.25300 0.25300 None None None None None None TNFRSF10B|0.000696636|97.26%
View muestra2_s1 19 rs11084490
dbSNP Clinvar 		57742472 1107.29 G C PASS 1/1 29 START_GAINED LOW None 0.86761 0.86760 None None None None None None AURKC|0.010911185|80.15%
View muestra2_s1 19 rs58264281
dbSNP Clinvar 		57742489 1020.54 C T PASS 1/1 26 START_GAINED LOW None 0.76777 0.76780 None None None None None None AURKC|0.010911185|80.15%
  • Page 1 of 1