+ 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:
DDX60L,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

DDX60L
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 fam3 AWJ 4 rs2684348
dbSNP Clinvar 		169282355 195.0 T C PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.57847 0.57850 0.41856 0.16 0.00 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs13110927
dbSNP Clinvar 		169299528 196.55 T C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.45028 0.45030 0.42770 0.32 0.00 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs3749499
dbSNP Clinvar 		169315760 878.72 C A PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.87400 0.87400 0.08946 0.20 0.00 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs4692661
dbSNP Clinvar 		169336662 943.72 T C PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.06 0.06 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs2130145
dbSNP Clinvar 		169341435 1587.25 A G PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.98502 0.98500 0.01585 1.00 0.00 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs2319850
dbSNP Clinvar 		169348404 24.2 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.03195 0.03195 0.03669 0.03 0.02 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs13151700
dbSNP Clinvar 		169362557 94.63 C G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.33427 0.33430 0.25935 0.16 0.05 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs2712113
dbSNP Clinvar 		169369820 916.36 T A PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.82388 0.82390 0.21806 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs2712114
dbSNP Clinvar 		169369853 903.78 A T PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.73962 0.73960 0.29798 None None None None None None DDX60L|0.002204005|90.41%
View fam3 AWJ 4 rs12507582
dbSNP Clinvar 		169369920 92.2 C T PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.32847 0.32850 0.25145 0.00 0.99 None None None None None None DDX60L|0.002204005|90.41%
  • Page 1 of 1