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: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.070 1.000 7 2009 2015
dbSNP: rs5443
rs5443
65 0.570 0.571 12 6845711 synonymous variant C/T snp 0.36 0.43 0.030 0.667 3 2003 2017
dbSNP: rs1570360
rs1570360
11 0.756 0.464 6 43770093 regulatory region variant A/G snp 0.74 0.010 1.000 1 2014 2014
dbSNP: rs1920101
rs1920101
1 1.000 0.071 12 62128857 intron variant G/A snp 0.20 0.010 < 0.001 1 2013 2013
dbSNP: rs1920201
rs1920201
1 1.000 0.071 3 105317253 intergenic variant A/C,T snp 0.23; 6.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2010963
rs2010963
34 0.630 0.607 6 43770613 5 prime UTR variant C/G snp 0.70 0.010 1.000 1 2014 2014
dbSNP: rs2070744
rs2070744
15 0.715 0.393 7 150992991 intron variant C/T snp 0.71 0.010 1.000 1 2013 2013
dbSNP: rs2268363
rs2268363
3 0.923 0.107 2 48974189 intron variant A/G snp 0.22 0.010 1.000 1 2010 2010
dbSNP: rs25489
rs25489
48 0.587 0.571 19 43552260 stop lost C/G,T snp 8.5E-06; 7.1E-02 3.2E-05; 5.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs2682826
rs2682826
4 0.878 0.107 12 117215033 3 prime UTR variant G/A snp 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2781659
rs2781659
1 1.000 0.071 6 131570680 intergenic variant A/G snp 0.42 0.010 1.000 1 2016 2016
dbSNP: rs2854744
rs2854744
15 0.707 0.357 7 45921476 intron variant G/T snp 0.48 0.010 1.000 1 2013 2013
dbSNP: rs41279104
rs41279104
4 0.846 0.107 12 117439680 intron variant C/T snp 0.11 0.010 1.000 1 2015 2015
dbSNP: rs699947
rs699947
25 0.667 0.571 6 43768652 intergenic variant A/C,T snp 0.59 0.010 1.000 1 2014 2014
dbSNP: rs745564626
rs745564626
9 0.784 0.250 14 103699003 missense variant C/G,T snp 4.3E-05 0.010 1.000 1 2008 2008
dbSNP: rs766603251
rs766603251
2 1.000 0.071 4 119565333 synonymous variant G/A snp 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs9810233
rs9810233
3 0.923 0.179 3 105292046 intergenic variant A/G snp 0.27 0.010 < 0.001 1 2013 2013