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: 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: rs6717924
rs6717924
BMPR2
2 0.925 0.160 2 202381581 intron variant G/A snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2013 2013
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: rs28940273
rs28940273
BEST1 ; LOC107984334
2 0.925 0.080 11 61955749 stop gained G/A;C snv 0.810 1.000 19 1998 2017
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: rs1805142
rs1805142
BEST1 ; LOC107984334
5 0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 0.710 1.000 1 2001 2001
dbSNP: rs762398929
rs762398929
FTH1 ; BEST1
2 0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918285
rs121918285
BEST1
1 1.000 0.080 11 61951893 stop gained C/G;T snv 4.0E-06 0.700 0
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: rs281865238
rs281865238
BEST1 ; LOC107984334
4 0.851 0.080 11 61957402 missense variant C/A;T snv 0.800 1.000 20 1998 2019
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: rs121918284
rs121918284
BEST1 ; LOC107984334
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.810 1.000 19 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: rs281865223
rs281865223
BEST1 ; LOC107984334
2 0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06 0.710 1.000 19 1998 2018
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
3 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.810 1.000 19 1998 2015
dbSNP: rs281865258
rs281865258
BEST1 ; LOC107984334
2 0.925 0.080 11 61959528 missense variant G/A snv 0.710 1.000 19 1998 2019
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: 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