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: rs121912660
rs121912660
26 0.683 0.240 17 7673781 missense variant C/A;G;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: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs587778720
rs587778720
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs753660142
rs753660142
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs9510787
rs9510787
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.700 1.000 2 2010 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: rs180177133
rs180177133
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
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: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6774494
rs6774494
4 0.882 0.160 3 169364845 intron variant G/A snv 0.42 0.700 1.000 2 2010 2016
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: 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: rs2894207
rs2894207
8 0.882 0.160 6 31295974 intron variant T/C snv 0.20 0.700 1.000 2 2010 2016
dbSNP: rs2860580
rs2860580
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.700 1.000 2 2010 2016
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: 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: rs121913476
rs121913476
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.700 1.000 1 2016 2016
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: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.700 1.000 1 2016 2016