Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
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 		0.820 1.000 7 2008 2016
dbSNP: rs121918287
rs121918287
FTH1 ; BEST1 ; LOC107984334
1.000 0.080 11 61959892 missense variant G/A snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 1.000 5 2008 2015
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
0.925 0.080 11 61956946 missense variant C/T snv 2.6E-04 1.5E-04
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 1.000 5 2000 2017
dbSNP: rs121918288
rs121918288
BEST1
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 		0.800 1.000 6 2008 2015
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
0.925 0.080 11 61956966 missense variant C/T snv 1.6E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 1.000 6 2008 2019
dbSNP: rs281865277
rs281865277
BEST1 ; LOC107984334
0.925 0.080 11 61959564 missense variant G/A snv 4.8E-05 7.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 1.000 5 2008 2015
dbSNP: rs199529046
rs199529046
BEST1 ; LOC107984334
0.925 0.080 11 61956964 missense variant T/C;G snv 6.8E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 1.000 3 2000 2016
dbSNP: rs121918286
rs121918286
BEST1 ; LOC107984334
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 		0.710 1.000 1 2014 2014
dbSNP: rs368387447
rs368387447
FTH1 ; BEST1 ; LOC107984334
1.000 0.080 11 61959917 missense variant T/C snv 4.8E-05 6.3E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 1.000 1 2016 2016
dbSNP: rs752521456
rs752521456
FTH1 ; BEST1
1.000 0.080 11 61962666 frameshift variant TG/- delins 2.0E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2009 2009
dbSNP: rs1417478879
rs1417478879
BEST1 ; LOC107984334
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 		0.700 0
dbSNP: rs1431752515
rs1431752515
BEST1 ; LOC107984334
1.000 0.080 11 61957434 missense variant C/G snv 4.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1554963305
rs1554963305
FTH1 ; BEST1 ; LOC107984334
1.000 0.080 11 61959899 missense variant T/C snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1554964287
rs1554964287
FTH1 ; BEST1
1.000 0.080 11 61962524 missense variant C/G snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1565392261
rs1565392261
BEST1 ; LOC107984334
1.000 0.080 11 61957445 missense variant T/G snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs267606678
rs267606678
BEST1 ; LOC107984334
0.925 0.080 11 61955888 missense variant C/G snv 3.3E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs281865225
rs281865225
BEST1 ; LOC107984334
0.925 0.080 11 61955745 missense variant G/A;T snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs281865238
rs281865238
BEST1 ; LOC107984334
0.851 0.080 11 61957402 missense variant C/A;T snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs753614067
rs753614067
BEST1 ; LOC107984334
1.000 0.080 11 61955870 missense variant C/G snv 3.3E-05 1.4E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs775283269
rs775283269
BEST1 ; LOC107984334
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 		0.700 0
dbSNP: rs1484152128
rs1484152128
BEST1 ; LOC107984334
1.000 0.080 11 61956934 missense variant T/C snv 4.0E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2010 2010
dbSNP: rs267606680
rs267606680
BEST1 ; LOC107984334
0.925 0.080 11 61956976 missense variant T/C snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2016 2016
dbSNP: rs281865223
rs281865223
BEST1 ; LOC107984334
0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2018 2018
dbSNP: rs281865258
rs281865258
BEST1 ; LOC107984334
0.925 0.080 11 61959528 missense variant G/A snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2019 2019
dbSNP: rs28940273
rs28940273
BEST1 ; LOC107984334
0.925 0.080 11 61955749 stop gained G/A;C snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2017 2017