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: rs2916733
rs2916733
4 0.851 0.120 8 6465757 intron variant G/A snv 0.28 0.810 1.000 1 2011 2011
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.800 1.000 26 2014 2020
dbSNP: rs79206939
rs79206939
FTO
3 0.925 0.160 16 53826140 missense variant G/A snv 2.1E-03 6.4E-04 0.710 1.000 1 2017 2017
dbSNP: rs117506642
rs117506642
2 1.000 0.040 2 195143585 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117829974
rs117829974
2 1.000 0.040 3 62886233 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2501846
rs2501846
2 1.000 0.040 1 212668592 upstream gene variant T/C snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1556620697
rs1556620697
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1558284033
rs1558284033
4 0.851 0.080 1 92833637 frameshift variant AACA/- delins 0.700 0
dbSNP: rs756881285
rs756881285
4 0.882 0.160 22 17209534 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs759191907
rs759191907
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.909 11 2009 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.050 1.000 5 2007 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2009 2018
dbSNP: rs1801160
rs1801160
6 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.040 1.000 4 2009 2019
dbSNP: rs186364861
rs186364861
4 0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04 0.030 1.000 3 2017 2019
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2012 2019
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.030 1.000 3 2008 2019
dbSNP: rs67376798
rs67376798
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.030 1.000 3 2014 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2014
dbSNP: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.020 1.000 2 2014 2017
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2006 2015
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2010 2014
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2013 2018
dbSNP: rs17822471
rs17822471
1 1.000 0.040 16 48208468 missense variant G/A snv 5.1E-02 4.8E-02 0.020 1.000 2 2013 2017
dbSNP: rs1800460
rs1800460
7 0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02 0.020 1.000 2 2006 2017