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+ Genes 2

Genes:
BEST1, PAX6,

+ Genes associated with diseases 2

Genes at Omim

BEST1, PAX6,
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)
PAX6 Aniridia, 106210 (3)
Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)
Cataract with late-onset corneal dystrophy, 106210 (3)
Foveal hypoplasia 1, 136520 (3)
Keratitis, 148190 (3)
Optic nerve hypoplasia, 165550 (3)
?Coloboma of optic nerve, 120430 (3)
?Coloboma, ocular, 120200 (3)
?Morning glory disc anomaly, 120430 (3)

Genes at Clinical Genomics Database

BEST1, PAX6,
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
PAX6 Peters anomaly
Coloboma, ocular
Cataract with late-onset corneal dystrophy
Aniridia
Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome)
Optic nerve hypoplasia
Keratitis
Foveal hypoplasia 1
Morning glory disc anomaly

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 2

Export to: CSV
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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 12086_s22 11 rs115379107
dbSNP Clinvar 		61730414 100.0 C A PASS 0/1 76 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 12086_s22 11 rs1800009
dbSNP Clinvar 		61730234 100.0 T C PASS 1/1 63 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%
View 12086_s22 11 rs1800007
dbSNP Clinvar 		61719387 100.0 T C PASS 0/1 58 None None None 0.68051 0.68050 0.44732 None None None None None None BEST1|0.0975286|51.61%
View 12086_s22 11 rs1800008
dbSNP Clinvar 		61730183 100.0 C T PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.10144 0.10140 0.17051 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View 12086_s22 11 rs17185413
dbSNP Clinvar 		61730553 100.0 T C PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.19076 0.00 0.00 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%

PAX6
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 12086_s22 11 rs146261351
dbSNP Clinvar 		31815028 100.0 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00062 None None None None None None PAX6|0.995427329|0.78%
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 12086_s22 11 rs3026393
dbSNP Clinvar 		31812215 100.0 A C PASS 0/1 52 None None None 0.00040 0.45430 0.44701 None None None None None None PAX6|0.995427329|0.78%
View 12086_s22 11 rs113492158
dbSNP Clinvar 		61725599 100.0 A AT... PASS 1/1 115 None None None None None None None None None BEST1|0.0975286|51.61%
View 12086_s22 11 rs760306
dbSNP Clinvar 		61724292 100.0 C T PASS 0/1 36 None None None 0.56290 0.56290 0.33949 None None None None None None BEST1|0.0975286|51.61%
View 12086_s22 11 rs195165
dbSNP Clinvar 		61722838 100.0 T A PASS 1/1 70 None None None 0.90895 0.90890 None None None None None None BEST1|0.0975286|51.61%
View 12086_s22 11 rs73477665
dbSNP Clinvar 		31815167 100.0 A T PASS 0/1 52 None None None 0.02556 0.02556 0.03415 None None None None None None PAX6|0.995427329|0.78%
View 12086_s22 11 rs195155
dbSNP Clinvar 		61731534 100.0 G T PASS 1/1 84 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%
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