Source: ALL
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: rs3761847
rs3761847
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs42938
rs42938
1 1.000 0.040 22 30569770 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs4840200
rs4840200
1 1.000 0.040 6 101879428 intron variant T/C snv 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs4895178
rs4895178
1 1.000 0.040 5 121518937 intergenic variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs572427454
rs572427454
3 0.882 0.080 15 26560943 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs587777365
rs587777365
2 0.925 0.080 5 162093967 missense variant C/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs71547482
rs71547482
1 1.000 0.040 6 103600058 intergenic variant -/TGCAATCT delins 0.11 0.700 1.000 1 2019 2019
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs763000109
rs763000109
TNF
9 0.827 0.240 6 31575788 missense variant C/G;T snv 4.1E-06; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs763256222
rs763256222
2 0.925 0.080 2 166288466 missense variant G/A snv 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs770386102
rs770386102
1 1.000 0.040 2 166037822 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs770771659
rs770771659
2 0.925 0.080 2 166286614 missense variant C/T snv 9.4E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs869312966
rs869312966
7 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
7 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs9390754
rs9390754
1 1.000 0.040 6 101517038 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs945564833
rs945564833
1 1.000 0.040 10 95381740 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs9833158
rs9833158
1 1.000 0.040 3 16742882 intergenic variant G/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs992670
rs992670
C5
3 0.882 0.120 9 121019492 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs1057518801
rs1057518801
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs121912707
rs121912707
3 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs121918612
rs121918612
3 0.925 0.040 1 160127704 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs12204701
rs12204701
1 1.000 0.040 6 4644367 regulatory region variant G/A snv 0.11 0.700 1.000 1 2018 2018