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: rs137852695
rs137852695
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
dbSNP: rs119455955
rs119455955
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.700 1.000 5 1997 2013
dbSNP: rs546989392
rs546989392
2 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs137852696
rs137852696
3 0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs119455954
rs119455954
2 0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 0.700 1.000 3 1998 2015
dbSNP: rs756564767
rs756564767
3 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 0.700 0
dbSNP: rs796052407
rs796052407
1 1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs386833980
rs386833980
2 0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 3 2009 2015
dbSNP: rs763162812
rs763162812
2 0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs587778809
rs587778809
2 0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs386833967
rs386833967
2 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 0.700 1.000 3 2008 2012
dbSNP: rs386833695
rs386833695
2 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 6 1997 2013
dbSNP: rs154774640
rs154774640
2 0.925 0.120 15 68218584 stop gained G/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs121908200
rs121908200
2 0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs398122959
rs398122959
2 0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs386833634
rs386833634
2 0.925 0.120 1 40092462 frameshift variant -/T delins 3.2E-05; 4.0E-06; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs386833709
rs386833709
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs750033880
rs750033880
3 0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs765380155
rs765380155
2 0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs768422260
rs768422260
2 0.925 0.120 15 68208280 inframe deletion GAG/- delins 1.4E-05 0.700 0
dbSNP: rs386833645
rs386833645
2 0.925 0.120 1 40097236 start lost C/T snv 1.4E-05 0.700 1.000 5 1998 2007
dbSNP: rs386833720
rs386833720
2 0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 1.000 3 1997 2010
dbSNP: rs1060502179
rs1060502179
1 1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs119455957
rs119455957
3 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs386833736
rs386833736
2 0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 0.700 0