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: rs1064796849
rs1064796849 		1.000 0.080 11 61951919 missense variant T/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121918284
rs121918284 		0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121918284
rs121918284 		0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1335203485
rs1335203485 		1.000 0.080 11 61955177 missense variant C/T snv 4.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1415568768
rs1415568768 		1.000 0.080 11 61965454 missense variant T/C snv 4.1E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2001 2001
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.010 1.000 1 2001 2001
dbSNP: rs1484152128
rs1484152128 		1.000 0.080 11 61956934 missense variant T/C snv 4.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs150247275
rs150247275 		1.000 0.080 11 61956986 synonymous variant G/A snv 1.3E-03 1.1E-03
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1800995
rs1800995 		0.851 0.080 11 61955906 missense variant GC/AA mnv
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2001 2001
dbSNP: rs1800995
rs1800995 		0.851 0.080 11 61955906 missense variant GC/AA mnv
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.010 1.000 1 2001 2001
dbSNP: rs1800995
rs1800995 		0.851 0.080 11 61955906 missense variant GC/AA mnv
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1800995
rs1800995 		0.851 0.080 11 61955906 missense variant GC/AA mnv
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142 		0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142 		0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142 		0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142 		0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.010 1.000 1 2001 2001
dbSNP: rs199508634
rs199508634 		1.000 0.080 11 61951826 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267606680
rs267606680 		0.925 0.080 11 61956976 missense variant T/C snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs281865207
rs281865207 		1.000 0.080 11 61951835 missense variant C/T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs281865223
rs281865223 		0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs281865239
rs281865239 		0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C4068898
Disease: Pseudohypopyon
Pseudohypopyon 		0.010 1.000 1 2015 2015
dbSNP: rs281865250
rs281865250 		0.925 0.080 11 61959507 missense variant C/A snv
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment 		Eye Diseases 0.010 1.000 1 2011 2011