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: 5
Number of Genes: 1

Export to: CSV
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EXD3

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 tsvc_variants_ionxpress_032 9 rs13291830
dbSNP Clinvar
140277826 546.553 C T PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54533 0.54530 0.34586 1.00 0.00 None None None None None None EXD3|0.002541663|89.59%
View tsvc_variants_ionxpress_032 9 rs7389250
dbSNP Clinvar
140268046 68.412 C T PASS 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.05751 0.05751 0.06077 None None None None None None EXD3|0.002541663|89.59%
View tsvc_variants_ionxpress_032 9 rs11533158
dbSNP Clinvar
140262426 55.5226 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70607 0.70610 0.35092 0.84 0.00 None None None None None None EXD3|0.002541663|89.59%
View tsvc_variants_ionxpress_032 9 rs7020732
dbSNP Clinvar
140247143 1295.4 T G PASS 1/1 179 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93391 0.93390 0.08739 0.60 0.00 None None None None None None EXD3|0.002541663|89.59%
View tsvc_variants_ionxpress_032 9 rs28545754
dbSNP Clinvar
140243844 2349.8 C T PASS 1/1 316 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57947 0.57950 0.46650 0.03 0.02 None None None None None None EXD3|0.002541663|89.59%
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