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: rs1109748
rs1109748 		11 61955173 synonymous variant C/A snv 0.21 0.11
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1109748
rs1109748 		11 61955173 synonymous variant C/A snv 0.21 0.11
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121918283
rs121918283 		1.000 0.080 11 61959511 inframe deletion TCA/- delins 7.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121918284
rs121918284 		0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 19 1998 2012
dbSNP: rs121918284
rs121918284 		0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.820 1.000 7 2008 2016
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: rs121918284
rs121918284 		0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs121918285
rs121918285 		1.000 0.080 11 61951893 stop gained C/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 0
dbSNP: rs121918286
rs121918286 		1.000 0.080 11 61956960 stop gained C/T snv 1.2E-05 3.5E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2014 2014
dbSNP: rs121918287
rs121918287 		1.000 0.080 11 61959892 missense variant G/A snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 5 2008 2015
dbSNP: rs121918288
rs121918288 		0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-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: rs121918288
rs121918288 		0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 6 2008 2015
dbSNP: rs121918289
rs121918289 		1.000 0.080 11 61955726 missense variant G/A snv
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 3 2004 2012
dbSNP: rs121918290
rs121918290 		0.925 0.080 11 61958146 missense variant G/A;T snv
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2004 2004
dbSNP: rs121918290
rs121918290 		0.925 0.080 11 61958146 missense variant G/A;T snv
CUI: C2674009
Disease: Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: 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: rs137853905
rs137853905 		1.000 0.080 11 61958158 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: 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: rs1417478879
rs1417478879 		1.000 0.080 11 61955924 missense variant C/G snv 2.7E-05 7.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1431752515
rs1431752515 		1.000 0.080 11 61957434 missense variant C/G snv 4.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1445469923
rs1445469923 		1.000 0.080 11 61955809 missense variant C/G snv 6.7E-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: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2001 2007