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: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2013 2016
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.810 1.000 3 2013 2018
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 0.500 2 2012 2012
dbSNP: rs2668423
rs2668423
1 1.000 0.040 19 1370527 intron variant T/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs6591182
rs6591182
2 0.925 0.080 11 65582285 missense variant T/G snv 0.47 0.45 0.700 1.000 1 2010 2010
dbSNP: rs7674434
rs7674434
KLB
2 0.925 0.120 4 39417789 intron variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.760 1.000 7 2014 2019
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.030 0.667 3 2008 2016
dbSNP: rs3810622
rs3810622
1 1.000 0.040 22 43942254 intron variant T/C;G snv 0.40 0.710 1.000 2 2013 2016
dbSNP: rs9273349
rs9273349
6 0.827 0.200 6 32658092 upstream gene variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.790 1.000 10 2011 2019
dbSNP: rs2241883
rs2241883
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.030 1.000 3 2016 2018
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.020 1.000 2 2018 2019
dbSNP: rs11166927
rs11166927
1 1.000 0.040 8 139784177 intron variant T/C snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs12373751
rs12373751
1 1.000 0.040 2 212072166 intron variant T/C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs13428113
rs13428113
1 1.000 0.040 2 118089309 intron variant T/C snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1800804
rs1800804
1 1.000 0.040 4 99574660 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2980888
rs2980888
2 1.000 0.040 8 125495066 intron variant T/C snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs3743788
rs3743788
1 1.000 0.040 16 55700194 missense variant T/C snv 3.2E-03 9.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs3772630
rs3772630
1 1.000 0.040 3 148708685 intron variant T/C snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs3772633
rs3772633
1 1.000 0.040 3 148700381 intron variant T/C snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs3816873
rs3816873
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2011 2011