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: rs140342925
rs140342925
5 0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 0.700 0
dbSNP: rs372267274
rs372267274
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs587780088
rs587780088
5 0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs587781628
rs587781628
5 0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913413
rs121913413
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.800 1.000 6 1999 2017
dbSNP: rs121913396
rs121913396
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs121913399
rs121913399
13 0.724 0.200 3 41224612 missense variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs28931589
rs28931589
17 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.800 1.000 6 1999 2017
dbSNP: rs28931588
rs28931588
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.820 1.000 5 1999 2009
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.810 1.000 7 1999 2017
dbSNP: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 6 1999 2017
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 0
dbSNP: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0