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: rs16863247
rs16863247 		2 0.925 0.160 1 162535706 regulatory region variant A/G snv 4.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs11169953
rs11169953
ACVRL1
1 1.000 0.080 12 51910615 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs706816
rs706816
ACVRL1
1 1.000 0.080 12 51919180 missense variant A/G snv 0.26 0.31 0.010 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2011 2011
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: 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: 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: 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: 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: rs1064796849
rs1064796849
BEST1
1 1.000 0.080 11 61951919 missense variant T/G snv 0.010 1.000 1 2017 2017