+ 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:
CTU2,

+ Genes associated with diseases 1

Genes at Omim

CTU2,
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

CTU2
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 schinzel_giedion 16 rs149847195
dbSNP Clinvar 		88780635 1022.52 G GGTGT PASS 0/1 30 MOTIF[MA0162.1:Egr1] LOW 0.77376 0.08566 None None None None None None CTU2|0.007426883|83.12%
View schinzel_giedion 16 rs11278302,rs397761749
dbSNP Clinvar 		88780634 1017.31 AG... A PASS 0/1 30 MOTIF[MA0162.1:Egr1] LOW 0.77376 0.77380 None None None None None None CTU2|0.007426883|83.12%
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 schinzel_giedion 2 rs15656
dbSNP Clinvar 		70520846 596.26 C T PASS 0/1 39 MOTIF[MA0162.1:Egr1] LOW 0.06909 0.06909 0.05388 None None None None None None SNRPG|0.735588372|7.48%
View schinzel_giedion 17 rs4794799
dbSNP Clinvar 		37213252 73.99 T C PASS 0/1 5 MOTIF[MA0162.1:Egr1] MODIFIER 0.53634 0.53630 None None None None None None None
View schinzel_giedion 4 rs4145517
dbSNP Clinvar 		190862287 81.45 C T PASS 0/1 7 MOTIF[MA0162.1:Egr1] LOW 0.26578 0.26580 0.28299 None None None None None None FRG1|0.098149242|51.5%
  • Page 1 of 1