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

ANO3, ATP1A3, KCTD17, TH, TUBB4A,
ANO3 Dystonia 24, 615034 (3)
ATP1A3 Dystonia-12, 128235 (3)
CAPOS syndrome, 601338 (3)
Alternating hemiplegia of childhood 2, 614820 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
TH Segawa syndrome, recessive, 605407 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)

Genes at Clinical Genomics Database

ANO3, ATP1A3, CIZ1, KCTD17, TH, TUBB4A,
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ATP1A3 Alternating hemiplegia of childhood 2
CIZ1 Primary cervical dystonia, adult-onset
KCTD17 Dystonia 26, myoclonic
TH Segawa syndrome, autosomal recessive
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 6

Export to: CSV

ANO3

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 dt39_s5 11 rs11604868
dbSNP
26621117 2581.43 A C PASS 0/1 160 SYNONYMOUS_CODING LOW SILENT 0.16294 0.16290 0.14726 None None None None None None None
View dt39_s5 11 rs2663168
dbSNP
26568966 7167.74 A G PASS 1/1 186 SYNONYMOUS_CODING LOW SILENT 0.67512 0.67510 0.34930 None None None None None None None

ATP1A3

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 dt39_s5 19 rs2217342
dbSNP
42489516 6427.17 A C PASS 1/1 170 SYNONYMOUS_CODING LOW SILENT 0.90156 0.90160 0.07028 None None None None None None None

CIZ1

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 dt39_s5 9 rs770045508
dbSNP
130950152 4.25 T C LowGQX;LowQD 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KCTD17

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 dt39_s5 22 rs710185
dbSNP
37453452 1405.05 C T PASS 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.83766 0.83770 0.19891 None None None None None None None

TH

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 dt39_s5 11 rs6357
dbSNP
2188238 605.54 C T PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT 0.15455 0.15460 0.24714 None None None None None None None

TUBB4A

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 dt39_s5 19 rs2071347
dbSNP
6495736 9407.52 A G PASS 1/1 239 SYNONYMOUS_CODING LOW SILENT 0.62939 0.62940 0.30468 None None None None None None None