+ 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 2

Genes:
HLA-DRB1, KCNN3,

+ Genes associated with diseases 1

Genes at Omim

HLA-DRB1,
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

HLA-DRB1
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 filtered 2484 6 rs769779152,rs17878703
dbSNP Clinvar 		32552137 16173.1 G GA... PASS 1/3 111 FRAME_SHIFT HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%

KCNN3
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 filtered 2484 1 rs748855613,rs58327065
dbSNP Clinvar 		154842199 3718.81 GGCT G,... PASS 1/3 13 CODON_INSERTION MODERATE None None None None None None None KCNN3|0.329640894|25.51%
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 filtered 2484 5 rs768775829
dbSNP Clinvar 		14601041 1640.17 CTTTT C,... PASS 1/3 22 None None None None None None None None None FAM105A|0.056263234|60.84%
View gordonsepilepsy filtered 2484 6 rs202215504,rs796577237,rs546027408,rs398000295
dbSNP Clinvar 		6318921 5917.68 G GA... PASS 1/3 49 None None None 0.38520 None None None None None None F13A1|0.20134717|36.61%
View gordonsepilepsy filtered 2484 9 rs377469216
dbSNP Clinvar 		107556793 9858.17 T TA... PASS 1/3 16 None None None None None None None None None ABCA1|0.668333708|9.43%
View gordonsepilepsy filtered 2484 10 rs71019410
dbSNP Clinvar 		88458996 9207.17 TT... T,... PASS 1/3 72 None None None 0.36260 None None None None None None LDB3|0.330839914|25.44%
View gordonsepilepsy filtered 2484 3 rs149795767,rs201757509
dbSNP Clinvar 		4738999 2860.69 G GG... PASS 1/3 18 None None None None None None None None None ITPR1|0.673215803|9.28%
  • Page 1 of 1