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: rs1555642784
rs1555642784
5 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
dbSNP: rs776969714
rs776969714
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs1554901898
rs1554901898
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
dbSNP: rs1554902217
rs1554902217
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 2012 2013
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 < 0.001 1 2016 2016
dbSNP: rs704180
rs704180
6 0.807 0.240 12 21841177 intron variant A/G snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs772037717
rs772037717
8 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs878853323
rs878853323
4 0.882 0.160 1 40092499 missense variant A/G snv 0.700 0
dbSNP: rs878853324
rs878853324
5 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
dbSNP: rs869320624
rs869320624
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs895293055
rs895293055
5 0.851 0.080 6 41909351 frameshift variant C/- delins 0.010 1.000 1 2015 2015
dbSNP: rs878853325
rs878853325
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516264
rs1057516264
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs730882147
rs730882147
5 0.851 0.080 6 41909351 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs672601366
rs672601366
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
dbSNP: rs908867
rs908867
7 0.851 0.160 11 27724217 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs80338700
rs80338700
7 0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs769236847
rs769236847
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs749203329
rs749203329
7 0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0