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: rs121908377
rs121908377
3 1.000 0.120 7 114662075 missense variant G/A snv 0.810 1.000 3 2001 2017
dbSNP: rs121908378
rs121908378
2 1.000 0.120 7 114642616 stop gained C/T snv 0.710 1.000 2 2005 2012
dbSNP: rs201649896
rs201649896
1 1.000 0.120 7 114426561 missense variant A/T snv 4.3E-04 3.3E-04 0.700 1.000 1 2005 2005
dbSNP: rs761316361
rs761316361
1 1.000 0.120 7 114629883 inframe insertion ACAACAGCAGCA/-;ACAACAGCAGCAACAACAGCAGCA delins 6.3E-05 0.700 1.000 1 2005 2005
dbSNP: rs879253771
rs879253771
1 1.000 0.120 7 114652275 frameshift variant CA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs879253772
rs879253772
1 1.000 0.120 7 114659617 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs1135401820
rs1135401820
1 1.000 0.120 7 114662188 splice donor variant T/C snv 0.700 0
dbSNP: rs1178491246
rs1178491246
1 1.000 0.120 7 114658225 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs61745597
rs61745597
1 1.000 0.120 4 112623837 missense variant G/A;C;T snv 4.1E-06; 1.2E-02 0.700 0
dbSNP: rs76187047
rs76187047
1 1.000 0.120 4 112585555 missense variant C/G;T snv 4.1E-06; 1.3E-02 0.700 0
dbSNP: rs1131012
rs1131012
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2004 2004
dbSNP: rs1433722257
rs1433722257
1 1.000 0.120 3 70972170 missense variant C/A;T snv 1.6E-05; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1466535
rs1466535
9 0.790 0.160 12 57140687 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs563378859
rs563378859
8 0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs6003
rs6003
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.010 1.000 1 2015 2015
dbSNP: rs6725189
rs6725189
2 0.925 0.120 2 20996129 downstream gene variant G/T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2018 2018
dbSNP: rs75391579
rs75391579
5 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs761606953
rs761606953
1 1.000 0.120 3 70972053 missense variant C/T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs780936436
rs780936436
2 0.925 0.240 7 124863547 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs797045586
rs797045586
3 0.925 0.120 3 70972666 missense variant C/T snv 0.010 1.000 1 2017 2017