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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV

ZNF283

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 hp37_1_filt_10x 19 rs2883946
dbSNP
44352688 225.77 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.38738 0.38740 0.41217 None None None None None None None
View hp37_1_filt_10x 19 rs1061769
dbSNP
44352666 251.77 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38738 0.38740 0.36622 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2356437
dbSNP
44352665 536.77 T C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68231 0.68230 0.22580 0.47 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs1061768
dbSNP
44352639 342.77 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14976 0.14980 0.18414 0.01 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs957569
dbSNP
44351836 489.77 G A PASS 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.68231 0.68230 0.21024 None None None None None None None
View hp37_1_filt_10x 19 rs2195980
dbSNP
44351694 721.77 C T PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80292 0.80290 0.11235 0.19 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs79626467,rs71907168
dbSNP
44351166 260.73 GG... G PASS 0/1 17 CODON_DELETION MODERATE 0.38778 0.38780 0.38758 None None None None None None None