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: rs28940274
rs28940274
BEST1 ; LOC107984334
1.000 0.080 11 61955723 missense variant T/C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 20 1998 2019
dbSNP: rs28941469
rs28941469
BEST1 ; LOC107984334
1.000 0.080 11 61957429 missense variant T/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 20 1998 2019
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
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 		0.810 1.000 19 1998 2012
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 19 1998 2015
dbSNP: rs28940273
rs28940273
BEST1 ; LOC107984334
0.925 0.080 11 61955749 stop gained G/A;C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 19 1998 2017
dbSNP: rs28940570
rs28940570
BEST1 ; LOC107984334
1.000 0.080 11 61958159 missense variant C/T snv 4.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 19 1998 2019
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: rs121918289
rs121918289
BEST1 ; LOC107984334
1.000 0.080 11 61955726 missense variant G/A snv
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		0.810 1.000 3 2004 2012
dbSNP: rs1800995
rs1800995
BEST1 ; LOC107984334
0.851 0.080 11 61955906 missense variant GC/AA mnv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 2 2001 2012
dbSNP: rs281865218
rs281865218
BEST1
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 		0.800 1.000 20 1998 2012
dbSNP: rs281865238
rs281865238
BEST1 ; LOC107984334
0.851 0.080 11 61957402 missense variant C/A;T snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 20 1998 2019
dbSNP: rs281865205
rs281865205
BEST1
1.000 0.080 11 61951832 missense variant T/C;G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 19 1998 2012
dbSNP: rs28940275
rs28940275
BEST1
1.000 0.080 11 61951822 missense variant A/C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 19 1998 2012
dbSNP: rs28940276
rs28940276
BEST1
1.000 0.080 11 61951831 missense variant G/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 19 1998 2012
dbSNP: rs28940278
rs28940278
BEST1
0.925 0.080 11 61951946 missense variant G/A snv 1.6E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 19 1998 2019
dbSNP: rs28941468
rs28941468
BEST1 ; LOC107984334
1.000 0.080 11 61959526 missense variant G/A snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 19 1998 2012
dbSNP: rs281865255
rs281865255
BEST1 ; LOC107984334
0.925 0.080 11 61959517 missense variant A/G snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 1.000 18 1998 2011
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: rs121918291
rs121918291
BEST1 ; LOC107984334
1.000 0.080 11 61957457 missense variant A/G snv
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		0.800 1.000 2 2004 2012
dbSNP: rs267606680
rs267606680
BEST1 ; LOC107984334
0.925 0.080 11 61956976 missense variant T/C snv
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.800 1.000 1 2012 2012
dbSNP: rs1805143
rs1805143
BEST1 ; LOC107984334
1.000 0.080 11 61959519 missense variant C/G;T snv 4.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.800 0
dbSNP: rs267606676
rs267606676
BEST1 ; LOC107984334
0.925 0.080 11 61957432 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.800 0
dbSNP: rs267606677
rs267606677
BEST1 ; LOC107984334
0.925 0.080 11 61957430 missense variant A/G snv
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.800 0