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: rs137853056
rs137853056
1 1.000 0.040 6 161350139 stop gained C/T snv 0.700 0
dbSNP: rs1562485799
rs1562485799
1 1.000 0.040 6 162054149 stop gained A/C snv 0.700 0
dbSNP: rs397518439
rs397518439
1 1.000 0.040 6 162727661 splice donor variant C/A;G snv 0.700 0
dbSNP: rs55961220
rs55961220
1 1.000 0.040 6 161785778 missense variant A/C snv 0.700 0
dbSNP: rs1060499619
rs1060499619
4 0.851 0.040 21 32681590 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2013 2013
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs398122403
rs398122403
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs74315355
rs74315355
7 0.790 0.080 1 20644639 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs762472005
rs762472005
5 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs763652747
rs763652747
1 1.000 0.040 6 161548996 missense variant C/T snv 2.8E-05 7.0E-06 0.010 1.000 1 2016 2016