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: rs168990
rs168990 		11 61956387 intron variant G/C snv 0.88
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs183176
rs183176 		11 61954793 intron variant C/A snv 0.88
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs195162
rs195162 		11 61957042 intron variant C/G;T snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs195163
rs195163 		11 61956531 intron variant C/T snv 0.84
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: rs195166
rs195166 		11 61954112 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2736594
rs2736594 		11 61954740 intron variant G/T snv 0.11
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2736596
rs2736596 		11 61951554 intron variant G/A snv 5.4E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2955683
rs2955683 		11 61957703 intron variant G/A snv 0.84
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2955684
rs2955684 		11 61957702 intron variant T/C snv 0.84
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs741886
rs741886 		11 61957315 intron variant G/T snv 6.0E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28940273
rs28940273 		0.925 0.080 11 61955749 stop gained G/A;C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 19 1998 2017
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: 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: 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: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 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: rs28940273
rs28940273 		0.925 0.080 11 61955749 stop gained G/A;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 2017 2017
dbSNP: rs762398929
rs762398929 		0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs762398929
rs762398929 		0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 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: rs775283269
rs775283269 		1.000 0.080 11 61957408 stop gained C/A;T snv 8.0E-06; 8.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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