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: 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
dbSNP: rs776877803
rs776877803
1 1.000 0.080 22 37095574 missense variant A/G;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs786205058
rs786205058
1 1.000 0.080 22 37073531 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs786205059
rs786205059
1 1.000 0.080 22 37069072 splice donor variant C/G snv 0.700 0
dbSNP: rs786205060
rs786205060
1 1.000 0.080 22 37069154 frameshift variant -/GGGG delins 0.700 0
dbSNP: rs869320724
rs869320724
1 1.000 0.080 22 37069307 frameshift variant -/GC delins 8.2E-06 0.700 0
dbSNP: rs769083817
rs769083817
1 1.000 0.080 22 37070545 missense variant C/A;G snv 3.2E-05; 5.6E-05 0.720 1.000 13 2008 2018
dbSNP: rs137853119
rs137853119
1 1.000 0.080 22 37075180 missense variant C/T snv 4.0E-06 3.5E-05 0.800 1.000 12 2008 2015
dbSNP: rs137853120
rs137853120
1 1.000 0.080 22 37073553 missense variant C/T snv 2.8E-05 6.3E-05 0.800 1.000 12 2008 2015
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: 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: rs387907018
rs387907018
1 1.000 0.080 22 37073550 missense variant C/T snv 1.6E-05 2.1E-05 0.800 1.000 12 2008 2015