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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:

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
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+ Genes 1

Genes:
KIF27,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

KIF27
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 20166-01-01_s20-kopie 9 rs13289566
dbSNP Clinvar 		86504005 5360.35 C T PASS 0/1 473 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17472 0.17470 0.22850 1.00 0.00 None None None None None None KIF27|0.224927023|33.89%
View 20166-01-01_s20-kopie 9 rs295274
dbSNP Clinvar 		86468715 5883.96 A T PASS 0/1 507 SYNONYMOUS_CODING LOW SILENT 0.65316 0.65320 0.30409 None None None None None None KIF27|0.224927023|33.89%
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 20166-01-01_s20-kopie 9 rs12682834
dbSNP Clinvar 		90062823 2661.61 A G PASS 0/1 473 None None None 0.63678 0.63680 0.42327 None None None None None None None
View 20166-01-01_s20-kopie 9 rs774904497
dbSNP Clinvar 		27062802 301.9 CA C LowVariantFreq;R8 0/1 139 None None None None None None None None None IFT74|0.368880838|22.78%
View 20166-01-01_s20-kopie 9 rs542604000
dbSNP Clinvar 		26956415 9143.82 G C PASS 0/1 746 START_GAINED LOW 0.00020 0.00020 None None None None None None IFT74|0.368880838|22.78%
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