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: rs2870463
rs2870463
3 0.882 0.040 16 75216819 upstream gene variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs3798343
rs3798343
5 0.827 0.160 6 35389916 intron variant C/G snv 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs3828599
rs3828599
5 0.882 0.040 5 151022235 intron variant A/G snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs3834458
rs3834458
7 0.807 0.200 11 61827449 intron variant T/- del 0.28 0.010 1.000 1 2019 2019
dbSNP: rs4264
rs4264
1 1.000 0.040 7 93886765 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs6505162
rs6505162
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs6859
rs6859
10 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs6882076
rs6882076
9 0.827 0.160 5 156963286 upstream gene variant T/C snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs6922548
rs6922548
3 0.882 0.040 6 35385746 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs747126003
rs747126003
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7819412
rs7819412
6 0.827 0.120 8 11187652 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs869109213
rs869109213
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.010 1.000 1 2019 2019
dbSNP: rs9267551
rs9267551
7 0.807 0.160 6 31730180 5 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9282541
rs9282541
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2018 2019
dbSNP: rs1065852
rs1065852
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2018 2018
dbSNP: rs10846744
rs10846744
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs116092985
rs116092985
4 0.882 0.040 16 2110972 missense variant A/G snv 6.5E-02 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs12040273
rs12040273
3 0.882 0.040 1 230063651 intron variant C/T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs12115090
rs12115090
3 0.882 0.040 8 75012585 intron variant A/C snv 0.33 0.44 0.010 1.000 1 2018 2018
dbSNP: rs12344245
rs12344245
3 0.882 0.040 9 69340801 intron variant A/G snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs12740374
rs12740374
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.010 1.000 1 2018 2018