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: rs121918365
rs121918365
3 0.882 0.080 12 50992810 missense variant C/G snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918366
rs121918366
5 0.827 0.160 12 50992291 missense variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs121918367
rs121918367
5 0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs137852311
rs137852311
3 0.882 0.120 X 55014830 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs139105452
rs139105452
1 1.000 0.080 22 37066133 missense variant C/T snv 8.0E-03 8.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs376129674
rs376129674
HJV
1 1.000 0.080 1 146018204 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 1.000 1 2012 2012
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: 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: rs199474802
rs199474802
1 1.000 0.080 22 37089737 missense variant A/G snv 0.700 1.000 12 2008 2015
dbSNP: rs199474803
rs199474803
1 1.000 0.080 22 37098439 missense variant C/T snv 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
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: rs770897887
rs770897887
1 1.000 0.080 22 37070584 missense variant A/G snv 4.0E-06 0.700 1.000 12 2008 2015
dbSNP: rs773272073
rs773272073
1 1.000 0.080 22 37070563 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 12 2008 2015
dbSNP: rs776069764
rs776069764
1 1.000 0.080 22 37066196 missense variant G/A snv 2.0E-05 4.2E-05 0.700 1.000 12 2008 2015
dbSNP: rs1135401784
rs1135401784
CP
3 0.925 0.120 3 149178537 missense variant A/G snv 0.700 0
dbSNP: rs1373272804
rs1373272804
1 1.000 0.080 22 37086372 missense variant G/A snv 4.2E-06 7.0E-06 0.700 0
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: rs137853122
rs137853122
1 1.000 0.080 22 37084339 stop gained A/C snv 0.700 0
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: rs1569024289
rs1569024289
1 1.000 0.080 22 37098545 stop gained G/C snv 0.700 0
dbSNP: rs386134141
rs386134141
CP
3 0.925 0.120 3 149177980 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs767094129
rs767094129
1 1.000 0.080 22 37070539 frameshift variant CC/-;C;CCC delins 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs775869554
rs775869554
1 1.000 0.080 22 37066942 stop gained G/A snv 7.0E-06 0.700 0