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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 0

Export to: CSV
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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 sy-51_s2 17 rs763967889
dbSNP Clinvar
39659879 100.0 GA G R5x9 0/1 63 None None None None None None None None None KRT13|0.071438602|57.11%
View sy-51_s2 15 rs557978126,rs397748718
dbSNP Clinvar
86768264 80.0 C CT R5x9 0/1 25 None None None None None None None None None AGBL1|0.082073978|54.74%
View sy-51_s2 14 rs796190847
dbSNP Clinvar
74973582 100.0 G GT... R5x9 0/1 88 None None None None None None None None None LTBP2|0.184719306|38.39%
View sy-51_s2 10 . 105815202 100.0 TCA T R5x9 0/1 38 None None None None None None None None None COL17A1|0.220252717|34.39%
View sy-51_s2 8 rs3835176,rs398010096
dbSNP Clinvar
141669818 100.0 AT A R5x9 0/1 65 None None None 0.00200 0.75580 None None None None None None PTK2|0.369628478|22.73%
View sy-51_s2 7 rs552794683
dbSNP Clinvar
106523362 100.0 CA C R5x9 0/1 58 None None None 0.45128 0.45130 None None None None None None PIK3CG|0.990082262|1.08%
View sy-51_s2 7 . 20739336 93.0 G GA R5x9 0/1 27 None None None None None None None None None ABCB5|0.12579132|46.5%
View sy-51_s2 5 rs200404754
dbSNP Clinvar
89933861 59.0 TA T R5x9 0/1 18 None None None None None None None None None ADGRV1|0.328571635|25.58%
View sy-51_s2 2 rs202047534,rs535370229
dbSNP Clinvar
228159660 70.0 GTT GT,G R5x9 1/2 35 None None None 0.22800 None None None None None None COL4A3|0.119573089|47.51%
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