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:
C5,

Genes at Omim

C5,
C5 C5 deficiency, 609536 (3)
[Eculizumab, poor response to], 615749 (3)

Genes at Clinical Genomics Database

C5,
C5 Eculizumab, poor response to
Complement component 5 deficiency

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
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C5

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 manuela_niro 9 rs41258306
dbSNP Clinvar
123716103 35.71 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.05232 0.05232 0.06881 None None None None None None C5|0.070590656|57.35%
View manuela_niro 9 rs17612
dbSNP Clinvar
123725926 339.25 T G PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.03534 0.03534 0.05390 0.17 0.07 None None None None None None C5|0.070590656|57.35%
View manuela_niro 9 rs10985126
dbSNP Clinvar
123783934 180.81 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.24121 0.24120 0.24796 None None None None None None C5|0.070590656|57.35%
View manuela_niro 9 rs17216529
dbSNP Clinvar
123800218 59.66 C T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.14657 0.14660 0.12396 0.10 0.40 None None None None None None C5|0.070590656|57.35%
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