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

TCF4,
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)

Genes at Clinical Genomics Database

TCF4,
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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TCF4

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 sy-51_s2 18 rs17522826
dbSNP Clinvar
53070914 100.0 G A PASS 0/1 27 None None None 0.19229 0.19230 0.03 None None None None None None TCF4|0.999272266|0.38%
View sy-51_s2 18 rs611326
dbSNP Clinvar
53303101 100.0 C G PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00123 0.52 0.00 None None None None None None TCF4|0.999272266|0.38%
View sy-51_s2 18 rs8766
dbSNP Clinvar
52895531 100.0 T C PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.34245 0.34250 0.36468 None None None None None None TCF4|0.999272266|0.38%
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 sy-51_s2 18 rs1788027
dbSNP Clinvar
52942827 100.0 G A PASS 0/1 43 None None None 0.57029 0.57030 0.46655 None None None None None None TCF4|0.999272266|0.38%
View sy-51_s2 18 rs9954890
dbSNP Clinvar
53177740 100.0 A T PASS 1/1 72 None None None 0.34265 0.34270 None None None None None None TCF4|0.999272266|0.38%
View sy-51_s2 18 rs610362
dbSNP Clinvar
53302845 100.0 C T PASS 1/1 51 None None None 0.99681 0.99680 None None None None None None TCF4|0.999272266|0.38%
View sy-51_s2 18 rs9964328
dbSNP Clinvar
53177774 100.0 G C PASS 1/1 73 None None None 0.34265 0.34270 None None None None None None TCF4|0.999272266|0.38%
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