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: rs137853123
rs137853123
1 1.000 0.080 22 37070557 stop gained G/A snv 5.2E-05 1.4E-05 0.700 0
dbSNP: rs775869554
rs775869554
1 1.000 0.080 22 37066942 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs121918366
rs121918366
5 0.827 0.160 12 50992291 missense variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs137852311
rs137852311
3 0.882 0.120 X 55014830 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs199474805
rs199474805
1 1.000 0.080 22 37066223 missense variant G/C snv 2.0E-05 1.4E-05 0.700 1.000 12 2008 2015
dbSNP: rs1569024289
rs1569024289
1 1.000 0.080 22 37098545 stop gained G/C snv 0.700 0
dbSNP: rs1449962575
rs1449962575
1 1.000 0.080 22 37089581 missense variant G/T snv 1.4E-05 0.700 1.000 12 2008 2015
dbSNP: rs267607121
rs267607121
1 1.000 0.080 22 37098426 missense variant G/T snv 8.0E-06 0.800 1.000 12 2008 2015
dbSNP: rs137853121
rs137853121
1 1.000 0.080 22 37084775 stop gained G/T snv 5.6E-06 7.0E-06 0.700 0
dbSNP: rs1430692214
rs1430692214
1 1.000 0.080 22 37096657 missense variant T/C snv 5.8E-06 0.700 1.000 12 2008 2015
dbSNP: rs199474804
rs199474804
1 1.000 0.080 22 37075251 missense variant T/C snv 4.0E-06 0.700 1.000 12 2008 2015