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

BEST1,
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)

Genes at Clinical Genomics Database

BEST1,
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

BEST1

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 6422_s23 11 rs115979721
dbSNP Clinvar
61730427 100.0 G T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.02137 0.02137 0.01621 0.09 0.01 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View 6422_s23 11 rs1109748
dbSNP Clinvar
61722645 100.0 C A PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.31749 0.31750 0.07653 None None None None None None BEST1|0.0975286|51.61%
View 6422_s23 11 rs1800007
dbSNP Clinvar
61719387 100.0 T C PASS 1/1 29 None None None 0.68051 0.68050 0.44732 None None None None None None BEST1|0.0975286|51.61%
View 6422_s23 11 rs115379107
dbSNP Clinvar
61730414 100.0 C A PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.02816 0.02815 0.02539 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View 6422_s23 11 rs1800009
dbSNP Clinvar
61730234 100.0 T C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.59145 0.59150 0.39932 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
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 6422_s23 11 rs73477665
dbSNP Clinvar
31815167 100.0 A T PASS 0/1 59 None None None 0.02556 0.02556 0.03415 None None None None None None PAX6|0.995427329|0.78%
View 6422_s23 11 rs195155
dbSNP Clinvar
61731534 100.0 G T PASS 1/1 113 None None None 0.99641 0.99640 0.00469 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View 6422_s23 11 rs766383236
dbSNP Clinvar
31811460 67.0 C CT PASS 0/1 12 None None None None None None None None None PAX6|0.995427329|0.78%
View 6422_s23 11 rs113492158
dbSNP Clinvar
61725599 100.0 A AT... PASS 1/1 120 None None None None None None None None None BEST1|0.0975286|51.61%
View 6422_s23 11 rs116299220
dbSNP Clinvar
61724841 100.0 C G PASS 0/1 39 None None None 0.00240 0.00240 0.00192 None None None None None None BEST1|0.0975286|51.61%
View 6422_s23 11 rs760306
dbSNP Clinvar
61724292 100.0 C T PASS 1/1 35 None None None 0.56290 0.56290 0.33949 None None None None None None BEST1|0.0975286|51.61%
View 6422_s23 11 rs195165
dbSNP Clinvar
61722838 100.0 T A PASS 1/1 38 None None None 0.90895 0.90890 None None None None None None BEST1|0.0975286|51.61%
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