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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2736191
rs2736191
2 0.925 0.040 6 31593133 upstream gene variant C/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs2856838
rs2856838
4 0.851 0.200 2 112782395 intron variant G/A snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs3750920
rs3750920
7 0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 0.010 1.000 1 2017 2017
dbSNP: rs4461841
rs4461841
2 0.925 0.160 7 80827525 intron variant C/T snv 0.93 0.91 0.010 1.000 1 2017 2017
dbSNP: rs778499956
rs778499956
1 1.000 0.040 12 121899786 missense variant C/G snv 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs1463502008
rs1463502008
2 0.925 0.040 12 10930275 missense variant G/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2234237
rs2234237
9 0.763 0.280 6 41282728 missense variant T/A snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs3933769
rs3933769
1 1.000 0.040 1 161589537 intron variant A/G snv 0.74 0.70 0.010 1.000 1 2016 2016
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs5743551
rs5743551
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.020 1.000 2 2015 2016
dbSNP: rs11198918
rs11198918
1 1.000 0.040 10 119423068 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1126535
rs1126535
1 1.000 0.040 X 136648396 synonymous variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1211375
rs1211375
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1466161664
rs1466161664
1 1.000 0.040 5 80633925 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1800750
rs1800750
TNF
5 0.827 0.280 6 31575186 upstream gene variant G/A snv 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2015 2015
dbSNP: rs186873296
rs186873296
1 1.000 0.040 4 143781321 intron variant A/G snv 2.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs2230345
rs2230345
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2015 2015