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

CYP4V2, PRDM5,
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)

Genes at Clinical Genomics Database

CYP4V2, PRDM5,
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
PRDM5 Brittle cornea syndrome 2

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 2

Export to: CSV
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CYP4V2

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 16420_s8 4 rs3736456
dbSNP Clinvar
187122355 100.0 T C PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.05697 None None None None None None CYP4V2|0.027940176|70.46%

PRDM5

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 16420_s8 4 rs343192
dbSNP Clinvar
121738049 100.0 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.27496 0.27500 0.28126 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs17051264
dbSNP Clinvar
121737624 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.04473 0.04473 0.03660 None None None None None None PRDM5|0.189342478|37.9%
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 16420_s8 4 rs3115310
dbSNP Clinvar
121774515 100.0 T C PASS 0/1 26 None None None 0.20487 0.20490 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs343185
dbSNP Clinvar
121742147 100.0 A G PASS 0/1 24 None None None 0.09046 0.09046 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs5861493,rs3838231
dbSNP Clinvar
121732339 100.0 A AT PASS 1/1 23 None None None 0.35863 0.35860 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs4833677
dbSNP Clinvar
121720960 100.0 C G PASS 0/1 53 None None None 0.22963 0.22960 0.24462 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs4833676
dbSNP Clinvar
121720941 100.0 C G PASS 0/1 51 None None None 0.22963 0.22960 0.24094 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs1511310
dbSNP Clinvar
121720781 100.0 G T PASS 0/1 54 None None None 0.11641 0.11640 0.11150 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs1511309
dbSNP Clinvar
121720771 100.0 T C PASS 1/1 54 None None None 0.27356 0.27360 0.27705 None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs72646297
dbSNP Clinvar
187131542 100.0 G A PASS 0/1 62 None None None 0.02576 0.02576 None None None None None None CYP4V2|0.027940176|70.46%,KLKB1|0.016624072|76.14%
View 16420_s8 4 . 121631375 100.0 G GAC PASS 0/1 47 None None None None None None None None None PRDM5|0.189342478|37.9%
View 16420_s8 4 rs2102575
dbSNP Clinvar
187131504 100.0 G A PASS 1/1 61 None None None 0.91034 0.91030 None None None None None None CYP4V2|0.027940176|70.46%,KLKB1|0.016624072|76.14%
View 16420_s8 4 rs2276917
dbSNP Clinvar
187129995 100.0 A G PASS 0/1 37 None None None 0.36941 0.36940 0.36599 None None None None None None CYP4V2|0.027940176|70.46%
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