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: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2013 2016
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 1.000 2 2017 2019
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 < 0.001 1 2019 2019
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2011 2013
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 1.000 2 2011 2013
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 1.000 2 2011 2013