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: rs1064793881
rs1064793881
3 0.925 0.120 17 7673784 missense variant C/T snv 0.700 0
dbSNP: rs121909250
rs121909250
1 1.000 0.040 13 110719736 missense variant G/C snv 0.700 0
dbSNP: rs121909251
rs121909251
1 1.000 0.040 13 110719739 missense variant A/G snv 0.700 0
dbSNP: rs121909252
rs121909252
1 1.000 0.040 13 110719667 missense variant C/A snv 0.700 0
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs1567549584
rs1567549584
2 0.925 0.120 17 7674245 missense variant T/C snv 0.700 0
dbSNP: rs201613442
rs201613442
1 1.000 0.040 1 74540276 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs397514495
rs397514495
4 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs587782144
rs587782144
8 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 < 0.001 3 2007 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 < 0.001 3 2007 2014
dbSNP: rs1049253
rs1049253
4 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 < 0.001 1 2007 2007
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 < 0.001 1 2007 2007
dbSNP: rs11515
rs11515
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 < 0.001 1 2014 2014
dbSNP: rs1800440
rs1800440
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs7958904
rs7958904
15 0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs874945
rs874945
14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.400 5 2007 2015
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 0.500 2 2015 2016
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.050 0.600 5 2007 2015