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: 6
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 fpd-alg-mad-1230-3 1 rs10442595
dbSNP Clinvar
233431241 118.0 G A PASS 0/1 25 MOTIF[MA0003.1:Ap2alpha] LOW None 0.07009 0.07009 0.09148 None None None None None None PCNXL2|0.057013658|60.67%
View fpd-alg-mad-1230-3 6 rs116182120
dbSNP Clinvar
32821979 578.0 G A PASS 0/1 68 MOTIF[MA0003.1:Ap2alpha] LOW None 0.00899 0.00899 0.00514 None None None None None None PSMB9|0.086998866|53.77%
View fpd-alg-mad-1230-3 15 rs3803354
dbSNP Clinvar
40856989 23488.0 C T PASS 1/1 107 MOTIF[MA0003.1:Ap2alpha] LOW None 0.85603 0.85600 0.11712 None None None None None None C15orf57|0.10303008|50.61%
View fpd-alg-mad-1230-3 1 rs73105692
dbSNP Clinvar
217804208 328.0 G T PASS 0/1 32 MOTIF[MA0003.1:Ap2alpha] LOW None 0.06949 0.06949 0.06179 None None None None None None GPATCH2|0.28849799|28.48%
View fpd-alg-mad-1230-3 15 rs57359401
dbSNP Clinvar
62360935 481.0 C T PASS 0/1 27 MOTIF[MA0003.1:Ap2alpha] LOW None 0.01837 0.01837 0.00527 None None None None None None C2CD4A|0.004515057|86.38%
View fpd-alg-mad-1230-3 16 rs6565177
dbSNP Clinvar
30346248 1731.0 G A PASS 0/1 30 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.36641 0.36640 None None None None None None None
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