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 at Omim

PITPNM3,
PITPNM3 Cone-rod dystrophy 5, 600977 (3)

Genes at Clinical Genomics Database

PITPNM3,
PITPNM3 Cone-rod dystrophy 5

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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PITPNM3

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-aix-mes-312-12 17 rs11654099
dbSNP Clinvar
6364753 10048.0 A G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.91394 0.91390 0.11095 None None None None None None PITPNM3|0.11771342|47.81%
View fpd-aix-mes-312-12 17 rs938288
dbSNP Clinvar
6381939 5655.0 G A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.38239 0.38240 0.48362 None None None None None None PITPNM3|0.11771342|47.81%
View fpd-aix-mes-312-12 17 rs3809835
dbSNP Clinvar
6406883 729.0 C T AltDepth 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.27356 0.27360 0.31632 0.29 0.00 None None None None None None PITPNM3|0.11771342|47.81%
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