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

FCGR2C, GABRA1,
FCGR2C Thrombocytopenic purpura, autoimmune, 188030 (1)
GABRA1 {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)
Epileptic encephalopathy, early infantile, 19, 615744 (3)

Genes at Clinical Genomics Database

GABRA1,
GABRA1 Epilepsy, juvenile myoclonic, susceptibility to, 5
Epilepsy, childhood absence, susceptibility to, 4
Epileptic encephalopathy, early infantile 19

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 3

Export to: CSV
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FCGR2C

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 16hpc01703_s1 genome 1 rs138747765
dbSNP Clinvar
161559571 1191.79 C T LowGQ 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.19389 0.19390 0.21081 0.02 0.98 None None None None None None FCGR3A|0.001574377|92.43%,FCGR2B|0.005666385|85.02%,FCGR2C|0.001262673|94.08%

FZD3

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 16hpc01703_s1 genome 8 rs2241802
dbSNP Clinvar
28384712 774.34 A G LowGQ 1/1 27 SYNONYMOUS_CODING LOW None 0.54233 0.54230 0.48047 None None None None None None FZD3|0.528936907|14.63%

GABRA1

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 16hpc01703_s1 genome 5 rs1129647
dbSNP Clinvar
161281245 117.67 T C LowGQ 0/1 7 SYNONYMOUS_CODING LOW None 0.22883 0.22880 0.22397 None None None None None None GABRA1|0.663889147|9.56%
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 16hpc01703_s1 genome 17 rs2302298
dbSNP Clinvar
3854840 754.79 G C LowGQ 1/1 28 None None None 0.38379 0.38380 None None None None None None ATP2A3|0.0615045|59.44%
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