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 17507_s32 X rs104886089
dbSNP Clinvar
107829820 89.0 AT A R5x9 0/1 44 None None None 0.00371 0.00371 None None None None None None COL4A5|0.684108995|8.97%
View 17507_s32 18 rs536947841
dbSNP Clinvar
53255634 54.0 GA G R5x9 0/1 22 None None None None None None None None None TCF4|0.999272266|0.38%
View 17507_s32 11 rs766383236
dbSNP Clinvar
31811460 48.0 C CT R5x9 0/1 14 None None None None None None None None None PAX6|0.995427329|0.78%
View 17507_s32 7 . 20739336 100.0 GA G R5x9 0/1 38 None None None None None None None None None ABCB5|0.12579132|46.5%
View 17507_s32 5 rs796402339
dbSNP Clinvar
67584512 100.0 AT A R5x9 0/1 77 None None None None None None None None None PIK3R1|0.917149804|3.05%
View 17507_s32 2 rs59443812,rs397724904
dbSNP Clinvar
227966298 74.0 T TA R5x9 0/1 18 None None None 0.53534 0.53530 None None None None None None COL4A4|0.099677436|51.24%
View 17507_s32 2 rs35717623,rs398081120,rs796278870
dbSNP Clinvar
227927189 97.0 GT G R5x9 0/1 24 None None None 0.55831 0.55830 None None None None None None COL4A4|0.099677436|51.24%
View 17507_s32 2 rs369656754
dbSNP Clinvar
189926228 100.0 TA T R5x9 0/1 48 None None None None None None None None None COL5A2|0.575233366|12.81%
View 17507_s32 13 . 99537790 71.0 TA T R5x9 0/1 34 None None None None None None None None None DOCK9|0.3175759|26.27%
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