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

KCTD17, PLA2G6,
KCTD17 Dystonia 26, myoclonic, 616398 (3)
PLA2G6 Parkinson disease 14, autosomal recessive, 612953 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Infantile neuroaxonal dystrophy 1, 256600 (3)

Genes at Clinical Genomics Database

KCTD17, PLA2G6,
KCTD17 Dystonia 26, myoclonic
PLA2G6 Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 2A
Parkinson disease 14, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 2

Export to: CSV

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

PLA2G6

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 . 38539294 9.3 A G LowGQX;LowMQ;LowQD 0/1 191 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.34 0.71 None None None None None None None
View dt39_s5 22 . 38539248 9.3 A G LowGQX;LowMQ;LowQD 0/1 192 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
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 rs11570645
dbSNP
38539420 49.99 A G LowGQX 1/1 2 None None None 0.02915 0.02915 None None None None None None None
View dt39_s5 22 . 38539452 6.36 T C LowGQX 0/1 2 None None None None None None None None None None
View dt39_s5 22 rs117600608
dbSNP
38539436 50.05 A C LowGQX 1/1 2 None None None 0.00739 0.00739 None None None None None None None
View dt39_s5 22 rs11570770
dbSNP
38507818 681.43 G T PASS 0/1 36 None None None 0.00140 0.00140 None None None None None None None
View dt39_s5 22 . 38539427 5.92 C A LowGQX 0/1 2 None None None None None None None None None None