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: rs149364097
rs149364097
3 0.925 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs80359454
rs80359454
4 0.882 0.200 13 32338828 frameshift variant AAAG/- delins 0.700 0
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.060 1.000 6 2012 2020
dbSNP: rs1057519904
rs1057519904
17 0.742 0.080 6 27872233 missense variant T/A snv 0.050 1.000 5 2012 2020
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 2014 2014
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs121912678
rs121912678
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2014 2014