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:
C3,

Genes at Omim

C3,
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)

Genes at Clinical Genomics Database

C3,
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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C3

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 94533-0209701724_ms_onbait 19 rs17030
dbSNP Clinvar
6677989 2558589.12 G A PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.48962 None None None None None None C3|0.038713281|66.19%
View 94533-0209701724_ms_onbait 19 rs423490
dbSNP Clinvar
6697406 5935644.34 A G PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.81490 0.81490 0.24420 None None None None None None C3|0.038713281|66.19%
View 94533-0209701724_ms_onbait 19 rs428453
dbSNP Clinvar
6702157 2140165.6 C G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.73243 0.73240 0.35299 None None None None None None C3|0.038713281|66.19%
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