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: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs12720458
rs12720458
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs138119149
rs138119149
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 0
dbSNP: rs141498002
rs141498002
8 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
dbSNP: rs1555564126
rs1555564126
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1557781252
rs1557781252
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1567690011
rs1567690011
9 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
dbSNP: rs1567721991
rs1567721991
9 0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 0.700 0
dbSNP: rs180177135
rs180177135
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs397517154
rs397517154
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs483352822
rs483352822
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs587777589
rs587777589
7 0.851 0.280 6 44311095 frameshift variant -/C delins 0.700 0
dbSNP: rs587783446
rs587783446
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs587783772
rs587783772
14 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
dbSNP: rs672601334
rs672601334
18 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
dbSNP: rs759125480
rs759125480
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs763028380
rs763028380
12 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs771237928
rs771237928
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs775011495
rs775011495
5 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs794727931
rs794727931
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0