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: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1131692227
rs1131692227
6 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs138632121
rs138632121
13 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 0.700 0
dbSNP: rs1568507354
rs1568507354
6 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
dbSNP: rs200426926
rs200426926
13 0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs200661329
rs200661329
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs374052333
rs374052333
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs75184679
rs75184679
16 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs81002885
rs81002885
6 0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 1998 1998