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: rs180177133
rs180177133
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
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: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519045
rs1057519045
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519901
rs1057519901
5 0.925 0.080 10 121498525 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121912660
rs121912660
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 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: rs121913476
rs121913476
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs138729528
rs138729528
25 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs1572072
rs1572072
2 1.000 0.120 13 23553071 intergenic variant G/T snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs162171
rs162171
1 14 80794033 intron variant A/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs17111237
rs17111237
1 14 80939997 intron variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs189897
rs189897
2 1.000 0.120 3 37477054 intron variant T/A snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs2517713
rs2517713
2 1.000 0.120 6 29950322 downstream gene variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs29232
rs29232
4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs3129055
rs3129055
2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs31489
rs31489
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs3731239
rs3731239
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016