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: rs776941569
rs776941569
6 0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs12338
rs12338
10 0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs121913365
rs121913365
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397507484
rs397507484
10 0.752 0.480 7 140753333 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913287
rs121913287
12 0.752 0.400 3 179199088 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs587777790
rs587777790
14 0.732 0.280 3 179199690 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
10 0.776 0.160 3 179203763 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519938
rs1057519938
10 0.776 0.160 3 179203764 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913284
rs121913284
11 0.776 0.160 3 179203765 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
26 0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
13 0.752 0.200 3 179218308 missense variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016