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: rs113090017
rs113090017
4 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.030 0.667 3 2007 2011
dbSNP: rs1007211
rs1007211
1 1.000 0.040 1 156860987 missense variant G/A snv 7.5E-03 9.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs1214110864
rs1214110864
2 1.000 0.040 7 87408071 missense variant A/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121908106
rs121908106
2 0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs1310517469
rs1310517469
1 1.000 0.040 18 23535546 missense variant C/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2008 2008
dbSNP: rs2230028
rs2230028
5 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2009 2009
dbSNP: rs28937590
rs28937590
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs61750420
rs61750420
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs72552778
rs72552778
5 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs757075712
rs757075712
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs886043118
rs886043118
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs1568793309
rs1568793309
3 0.882 0.120 20 10643851 frameshift variant G/- del 0.700 0
dbSNP: rs1569518070
rs1569518070
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0