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: rs1057516044
rs1057516044
9 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519443
rs1057519443
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
dbSNP: rs1060503383
rs1060503383
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1114167291
rs1114167291
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
dbSNP: rs1131691804
rs1131691804
8 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
dbSNP: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs1213930919
rs1213930919
9 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
dbSNP: rs1331463984
rs1331463984
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs137852981
rs137852981
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1554317931
rs1554317931
11 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
dbSNP: rs1554691658
rs1554691658
11 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555932766
rs1555932766
9 0.882 0.080 X 41210540 stop gained C/T snv 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs1569509136
rs1569509136
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs371011047
rs371011047
9 0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 0.700 0
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs764926983
rs764926983
9 0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 0.700 0
dbSNP: rs77078070
rs77078070
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs796052505
rs796052505
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0