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: 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: rs28940278
rs28940278
BEST1
2 0.925 0.080 11 61951946 missense variant G/A snv 1.6E-05 0.800 1.000 19 1998 2019
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: rs121918288
rs121918288
BEST1
2 0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06 0.700 1.000 18 1998 2011
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: rs199529046
rs199529046
BEST1 ; LOC107984334
2 0.925 0.080 11 61956964 missense variant T/C;G snv 6.8E-05 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: rs281865207
rs281865207
BEST1
2 1.000 0.080 11 61951835 missense variant C/T 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
dbSNP: rs281865224
rs281865224
BEST1 ; LOC107984334
1 1.000 0.080 11 61955744 missense variant C/A;T snv 0.700 1.000 18 1998 2011
dbSNP: rs281865225
rs281865225
BEST1 ; LOC107984334
2 0.925 0.080 11 61955745 missense variant G/A;T snv 0.700 1.000 18 1998 2011
dbSNP: rs281865226
rs281865226
BEST1 ; LOC107984334
1 1.000 0.080 11 61955758 missense variant G/C snv 0.700 1.000 18 1998 2011