BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: Vitelliform Macular Dystrophy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281865212
rs281865212 		1.000 0.080 11 61951867 missense variant C/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865213
rs281865213 		1.000 0.080 11 61951878 stop gained G/A;T snv 4.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865216
rs281865216 		1.000 0.080 11 61951887 missense variant C/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865217
rs281865217 		1.000 0.080 11 61951891 missense variant T/C snv 4.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865221
rs281865221 		1.000 0.080 11 61955194 missense variant C/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865224
rs281865224 		1.000 0.080 11 61955744 missense variant C/A;T snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865225
rs281865225 		0.925 0.080 11 61955745 missense variant G/A;T snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865226
rs281865226 		1.000 0.080 11 61955758 missense variant G/C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865227
rs281865227 		1.000 0.080 11 61955767 missense variant C/A;T snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865228
rs281865228 		1.000 0.080 11 61955769 missense variant T/C;G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865229
rs281865229 		1.000 0.080 11 61955771 missense variant C/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865230
rs281865230 		1.000 0.080 11 61955774 missense variant T/C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865231
rs281865231 		1.000 0.080 11 61955780 missense variant G/C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865232
rs281865232 		1.000 0.080 11 61955782 missense variant C/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865234
rs281865234 		1.000 0.080 11 61955873 missense variant G/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865235
rs281865235 		1.000 0.080 11 61955889 missense variant T/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865237
rs281865237 		1.000 0.080 11 61956988 missense variant G/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865240
rs281865240 		1.000 0.080 11 61957413 missense variant T/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865242
rs281865242 		1.000 0.080 11 61957420 missense variant C/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865243
rs281865243 		1.000 0.080 11 61957421 missense variant T/A;C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865244
rs281865244 		1.000 0.080 11 61957443 missense variant T/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865245
rs281865245 		1.000 0.080 11 61957453 missense variant G/A;C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865246
rs281865246 		1.000 0.080 11 61957460 missense variant C/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865247
rs281865247 		1.000 0.080 11 61958153 missense variant C/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011
dbSNP: rs281865248
rs281865248 		1.000 0.080 11 61958259 missense variant C/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 18 1998 2011