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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 0

Export to: CSV
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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 gordonsepilepsy normalized 2076 6 rs72975559
dbSNP Clinvar
136610872 43.65 C A . 1/1 2 MOTIF[MA0062.2:Gabp] LOW None None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy normalized 2076 11 rs7102434
dbSNP Clinvar
62607068 1606.17 A G . 0/1 22 MOTIF[MA0062.2:Gabp] MODIFIER None 0.11242 0.11240 0.08219 6.47 0.08 0.74339 D None None None None WDR74|0.135102832|45.09%
View gordonsepilepsy normalized 2076 9 rs71493031
dbSNP Clinvar
44118802 200.51 G C . 1/1 3 MOTIF[MA0062.2:Gabp] LOW None 0.67133 0.67130 None None None None None None None
View gordonsepilepsy normalized 2076 9 rs80121211
dbSNP Clinvar
44118806 200.51 A G . 1/1 3 MOTIF[MA0062.2:Gabp] MODIFIER None 0.69509 0.69510 None None None None None None None
View gordonsepilepsy normalized 2076 9 rs369889559
dbSNP Clinvar
44118807 200.51 C A . 1/1 3 MOTIF[MA0062.2:Gabp] MODIFIER None 0.69509 0.69510 None None None None None None None
View gordonsepilepsy normalized 2076 11 rs734094
dbSNP Clinvar
2323220 2164.71 G A . 0/1 5 MOTIF[MA0062.2:Gabp] LOW None 0.36582 0.36580 None None None None None None C11orf21|0.000478003|98.55%
View gordonsepilepsy normalized 2076 11 rs7124571
dbSNP Clinvar
3443773 285.44 A G . 1/1 2 MOTIF[MA0062.2:Gabp] MODIFIER None 0.62520 0.62520 None None None None None None None
View gordonsepilepsy normalized 2076 17 rs6502330
dbSNP Clinvar
13972811 2108.13 G A . 1/1 5 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99561 0.99560 None None None None None None None
View gordonsepilepsy normalized 2076 20 rs3746792
dbSNP Clinvar
389456 2175.23 C T . 0/1 3 MOTIF[MA0062.2:Gabp] LOW None 0.40415 0.40420 0.45403 None None None None None None RBCK1|0.095045325|52.09%
View gordonsepilepsy normalized 2076 3 rs1687295
dbSNP Clinvar
14889756 123.8 T C . 1/1 2 MOTIF[MA0062.2:Gabp] LOW None 0.81470 0.81470 None None None None None None FGD5|0.020001812|74.2%
View gordonsepilepsy normalized 2076 10 rs61848835
dbSNP Clinvar
51623400 101.8 T C . 1/1 2 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2076 10 rs11006477
dbSNP Clinvar
52420041 2397.02 G A . 1/1 2 MOTIF[MA0062.2:Gabp] LOW None 0.09085 0.09085 None None None None None None None
View gordonsepilepsy normalized 2076 18 rs3833864,rs386387489,rs386387490
dbSNP Clinvar
39535169 445.92 T TC . 0/1 18 MOTIF[MA0062.2:Gabp] LOW None 0.24062 0.24060 None None None None None None None
View gordonsepilepsy normalized 2076 20 rs2281282
dbSNP Clinvar
49575334 4988.5 A C . 0/1 11 MOTIF[MA0062.2:Gabp] MODIFIER None 0.52796 0.52800 0.42189 None None None None None None None
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