BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
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: rs672601356
rs672601356 		1.000 0.080 11 61955124 frameshift variant -/CA delins
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs28940275
rs28940275 		1.000 0.080 11 61951822 missense variant A/C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 19 1998 2012
dbSNP: rs281865254
rs281865254 		1.000 0.080 11 61959516 missense variant 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: rs281865218
rs281865218 		1.000 0.080 11 61951895 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1998 2012
dbSNP: rs281865255
rs281865255 		0.925 0.080 11 61959517 missense variant A/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 18 1998 2011
dbSNP: rs281865266
rs281865266 		1.000 0.080 11 61959547 missense variant A/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: rs281865268
rs281865268 		1.000 0.080 11 61959549 missense variant A/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: rs281865270
rs281865270 		1.000 0.080 11 61959553 missense variant A/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: rs121918291
rs121918291 		1.000 0.080 11 61957457 missense variant A/G snv
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2004 2012
dbSNP: rs1534842
rs1534842 		11 61946118 upstream gene variant A/G snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs195164
rs195164 		11 61956084 intron variant A/G snv 0.88
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs281865255
rs281865255 		0.925 0.080 11 61959517 missense variant A/G snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1555099968
rs1555099968 		1.000 0.080 11 61956897 missense variant A/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1565382549
rs1565382549 		1.000 0.080 11 61951892 missense variant A/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs267606677
rs267606677 		0.925 0.080 11 61957430 missense variant A/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs267606677
rs267606677 		0.925 0.080 11 61957430 missense variant A/G snv
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs281865208
rs281865208 		1.000 0.080 11 61951838 missense variant A/G;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: rs281865263
rs281865263 		1.000 0.080 11 61959535 missense variant A/G;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: rs281865529
rs281865529 		1.000 0.080 11 61955127 missense variant 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: rs1555099048
rs1555099048 		1.000 0.080 11 61955752 inframe deletion AGTACGAGAACC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: 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: 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: 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: 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