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: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057518083
rs1057518083
21 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
dbSNP: rs1057519438
rs1057519438
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs1085307845
rs1085307845
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1085308045
rs1085308045
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs1085308050
rs1085308050
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs1085308056
rs1085308056
8 0.851 0.160 10 87957850 splice region variant C/G snv 0.700 0
dbSNP: rs1114167293
rs1114167293
7 0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1114167295
rs1114167295
6 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
dbSNP: rs1114167296
rs1114167296
6 0.827 0.160 X 34656995 missense variant C/G snv 0.700 0
dbSNP: rs1114167297
rs1114167297
5 0.851 0.160 10 32019912 missense variant T/C snv 0.700 0
dbSNP: rs1131691299
rs1131691299
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1131692232
rs1131692232
6 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
dbSNP: rs121908216
rs121908216
7 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121913293
rs121913293
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs121913294
rs121913294
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs1307997067
rs1307997067
7 0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs140630794
rs140630794
3 0.925 0.040 21 36397429 missense variant A/C;G snv 1.3E-05; 4.2E-06 0.700 0
dbSNP: rs1554210073
rs1554210073
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1554893835
rs1554893835
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
dbSNP: rs1555013332
rs1555013332
4 0.882 0.160 11 70661635 frameshift variant -/T delins 0.700 0
dbSNP: rs1555247672
rs1555247672
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0