Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281865218
rs281865218
BEST1
1 1.000 0.080 11 61951895 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 20 1998 2012
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
1 1.000 0.080 11 61955723 missense variant T/C snv 0.810 1.000 20 1998 2019
dbSNP: rs28941469
rs28941469
BEST1 ; LOC107984334
1 1.000 0.080 11 61957429 missense variant T/A snv 0.810 1.000 20 1998 2019
dbSNP: rs281865205
rs281865205
BEST1
1 1.000 0.080 11 61951832 missense variant T/C;G snv 0.800 1.000 19 1998 2012
dbSNP: rs281865214
rs281865214
BEST1
1 1.000 0.080 11 61951879 missense variant C/A;G;T snv 3.2E-05; 4.0E-06; 4.0E-06 0.710 1.000 19 1998 2012
dbSNP: rs281865265
rs281865265
BEST1 ; LOC107984334
1 1.000 0.080 11 61959544 missense variant T/C snv 0.710 1.000 19 1998 2011
dbSNP: rs281865267
rs281865267
BEST1 ; LOC107984334
1 1.000 0.080 11 61959548 missense variant G/C snv 0.710 1.000 19 1998 2015
dbSNP: rs28940275
rs28940275
BEST1
1 1.000 0.080 11 61951822 missense variant A/C snv 0.800 1.000 19 1998 2012
dbSNP: rs28940276
rs28940276
BEST1
1 1.000 0.080 11 61951831 missense variant G/A snv 0.800 1.000 19 1998 2012
dbSNP: rs28940570
rs28940570
BEST1 ; LOC107984334
1 1.000 0.080 11 61958159 missense variant C/T snv 4.0E-06 0.810 1.000 19 1998 2019
dbSNP: rs28941468
rs28941468
BEST1 ; LOC107984334
1 1.000 0.080 11 61959526 missense variant G/A snv 0.800 1.000 19 1998 2012
dbSNP: rs137853905
rs137853905
BEST1 ; LOC107984334
1 1.000 0.080 11 61958158 missense variant G/A snv 0.700 1.000 18 1998 2011
dbSNP: rs1445469923
rs1445469923
BEST1 ; LOC107984334
1 1.000 0.080 11 61955809 missense variant C/G snv 6.7E-06 0.700 1.000 18 1998 2011
dbSNP: rs281865204
rs281865204
BEST1
1 1.000 0.080 11 61951823 missense variant C/G snv 0.700 1.000 18 1998 2011
dbSNP: rs281865206
rs281865206
BEST1
1 1.000 0.080 11 61951834 missense variant G/A snv 0.700 1.000 18 1998 2011
dbSNP: rs281865208
rs281865208
BEST1
1 1.000 0.080 11 61951838 missense variant A/G;T snv 4.0E-06 0.700 1.000 18 1998 2011
dbSNP: rs281865209
rs281865209
BEST1
1 1.000 0.080 11 61951844 missense variant G/A;C snv 1.2E-05 0.700 1.000 18 1998 2011
dbSNP: rs281865210
rs281865210
BEST1
1 1.000 0.080 11 61951853 missense variant C/T snv 0.700 1.000 18 1998 2011
dbSNP: rs281865211
rs281865211
BEST1
1 1.000 0.080 11 61951856 missense variant T/G snv 0.700 1.000 18 1998 2011
dbSNP: rs281865212
rs281865212
BEST1
1 1.000 0.080 11 61951867 missense variant C/G snv 0.700 1.000 18 1998 2011
dbSNP: rs281865213
rs281865213
BEST1
1 1.000 0.080 11 61951878 stop gained G/A;T snv 4.0E-06 0.700 1.000 18 1998 2011
dbSNP: rs281865215
rs281865215
BEST1
1 1.000 0.080 11 61951880 missense variant G/A snv 1.4E-05 0.700 1.000 18 1998 2011
dbSNP: rs281865216
rs281865216
BEST1
1 1.000 0.080 11 61951887 missense variant C/G snv 0.700 1.000 18 1998 2011
dbSNP: rs281865217
rs281865217
BEST1
1 1.000 0.080 11 61951891 missense variant T/C snv 4.0E-06 0.700 1.000 18 1998 2011
dbSNP: rs281865221
rs281865221
BEST1 ; LOC107984334
1 1.000 0.080 11 61955194 missense variant C/A snv 0.700 1.000 18 1998 2011