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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2010 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2010 2017
dbSNP: rs10772715
rs10772715
2 12 13885069 intron variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1426868527
rs1426868527
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2192970
rs2192970
2 12 13683379 intron variant G/A snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs2298383
rs2298383
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs324035
rs324035
1 3 114150007 intron variant A/C snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs369634041
rs369634041
3 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs3766566
rs3766566
1 1 203136227 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2016 2016
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2000 2000
dbSNP: rs71653619
rs71653619
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016