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: 7
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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 15ac02302_s1 genome 4 rs76563908
dbSNP Clinvar
190862243 1544.01 G T PASS 0/1 275 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FRG1|0.098149242|51.5%
View 15ac02302_s1 genome 4 rs202227709
dbSNP Clinvar
190862239 407.94 G C LowQD;SB 0/1 297 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FRG1|0.098149242|51.5%
View 15ac02302_s1 genome 4 rs79852642
dbSNP Clinvar
190862242 1359.91 T C PASS 0/1 277 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None FRG1|0.098149242|51.5%
View 15ac02302_s1 genome 19 rs933094151
dbSNP Clinvar
1074903 17.05 C G LowGQX;LowQD;SB 0/1 11 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None HMHA1|0.012940846|78.54%
View 15ac02302_s1 genome 19 rs11667582
dbSNP Clinvar
46367703 147.49 T C PASS 0/1 18 MOTIF[MA0162.1:Egr1] LOW None 0.14557 0.14560 0.12085 None None None None None None FOXA3|0.118418545|47.67%
View 15ac02302_s1 genome 17 rs139223575
dbSNP Clinvar
7123240 10251.02 T TG... PASS 1/1 64 MOTIF[MA0162.1:Egr1] LOW None 0.00679 0.46790 0.45172 None None None None None None ACADVL|0.231050725|33.28%
View 15ac02302_s1 genome 4 rs200947751
dbSNP Clinvar
77134707 1066.04 G A PASS 0/1 96 MOTIF[MA0162.1:Egr1] MODIFIER None 0.00100 0.00100 0.00031 None None None None None None SCARB2|0.345851225|24.43%
  • Page 1 of 1