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: rs137852846
rs137852846
1 1.000 0.120 3 4362224 missense variant G/A snv 4.0E-06 7.0E-06 0.820 1.000 8 2003 2018
dbSNP: rs137852847
rs137852847
1 1.000 0.120 3 4362223 missense variant C/T snv 4.0E-06 7.0E-06 0.810 1.000 7 2003 2018
dbSNP: rs137852852
rs137852852
1 1.000 0.120 3 4362236 missense variant G/A snv 4.0E-06 7.0E-06 0.810 1.000 7 2003 2018
dbSNP: rs137852850
rs137852850
1 1.000 0.120 3 4449322 missense variant A/G snv 7.6E-05 8.4E-05 0.800 1.000 11 2003 2017
dbSNP: rs137852849
rs137852849
1 1.000 0.120 3 4417132 missense variant G/A;C snv 9.2E-05; 4.0E-06 0.800 1.000 9 2003 2016
dbSNP: rs137852848
rs137852848
1 1.000 0.120 3 4376338 missense variant A/G snv 0.800 1.000 6 2003 2013
dbSNP: rs137852853
rs137852853
1 1.000 0.120 3 4362227 missense variant C/G snv 0.800 1.000 6 2003 2013
dbSNP: rs137852854
rs137852854
1 1.000 0.120 3 4418082 missense variant C/T snv 8.0E-06 0.800 1.000 6 2003 2013
dbSNP: rs387906976
rs387906976
1 1.000 0.120 3 4417180 missense variant C/A snv 0.800 1.000 6 2003 2013
dbSNP: rs1057517363
rs1057517363
1 1.000 0.120 3 4417229 missense variant C/G snv 0.800 1.000 5 2005 2013
dbSNP: rs1085307107
rs1085307107
1 1.000 0.120 3 4452983 missense variant C/T snv 0.710 1.000 2 2011 2017
dbSNP: rs1064793391
rs1064793391
1 1.000 0.120 3 4417183 missense variant T/C snv 0.710 1.000 1 2018 2018
dbSNP: rs757323641
rs757323641
1 1.000 0.120 3 4420130 stop gained C/G;T snv 4.0E-06 0.700 1.000 5 2003 2011
dbSNP: rs759888604
rs759888604
1 1.000 0.120 3 4418065 missense variant G/A snv 2.0E-05 0.700 1.000 5 2003 2011
dbSNP: rs763243827
rs763243827
1 1.000 0.120 3 4417171 missense variant G/A snv 2.5E-04 1.1E-04 0.700 1.000 5 2003 2011
dbSNP: rs764215221
rs764215221
1 1.000 0.120 3 4417192 missense variant T/A snv 2.5E-04 1.1E-04 0.700 1.000 5 2003 2011
dbSNP: rs137852845
rs137852845
1 1.000 0.120 3 4376365 stop gained G/A;C snv 0.700 1.000 3 2003 2011
dbSNP: rs200142963
rs200142963
1 1.000 0.120 3 4467188 missense variant G/A;C snv 6.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs137852844
rs137852844
1 1.000 0.120 3 4362193 stop gained G/A;T snv 3.2E-05 0.700 0
dbSNP: rs137852851
rs137852851
1 1.000 0.120 3 4467244 start lost A/C snv 0.700 0
dbSNP: rs137852855
rs137852855
1 1.000 0.120 3 4467245 start lost T/C snv 0.700 0
dbSNP: rs1553575867
rs1553575867
1 1.000 0.120 3 4420124 stop gained A/C snv 0.700 0
dbSNP: rs770241913
rs770241913
1 1.000 0.120 3 4418074 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs775324176
rs775324176
1 1.000 0.120 3 4449258 splice donor variant TACT/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs986500427
rs986500427
1 1.000 0.120 3 4467002 stop gained C/A;G;T snv 4.6E-06 0.700 0