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: rs10505232
rs10505232 		3 0.925 0.040 8 114878275 intergenic variant A/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs3181382
rs3181382
ADCY4
3 0.925 0.040 14 24320104 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9927732
rs9927732
BANP
3 0.925 0.040 16 88043118 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.010 1.000 1 2016 2016
dbSNP: rs1048719
rs1048719
GM2A
2 0.925 0.080 5 151253271 missense variant G/A snv 6.1E-02 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs11465996
rs11465996
LY96
7 0.790 0.240 8 73989727 upstream gene variant C/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs117739035
rs117739035
SIGIRR
1 1.000 0.040 11 408174 missense variant G/T snv 2.9E-02 2.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs121912594
rs121912594
CPS1
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1384663432
rs1384663432
CARD8
2 0.925 0.040 19 48218886 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1384936174
rs1384936174
NOD2
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 < 0.001 1 2016 2016
dbSNP: rs17883901
rs17883901
GCLC
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 < 0.001 1 2016 2016
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs2071747
rs2071747
HMOX1
4 0.851 0.120 22 35381192 missense variant G/C snv 4.3E-02 4.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2075783
rs2075783
GM2A
2 0.925 0.080 5 151267219 3 prime UTR variant A/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs2241712
rs2241712
B9D2 ; TMEM91
3 0.882 0.120 19 41363851 intron variant C/T snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2017 2017
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2016 2016
dbSNP: rs4912711
rs4912711
HBEGF
1 1.000 0.040 5 140338940 intron variant G/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 < 0.001 1 2016 2016
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs766709278
rs766709278
SIGIRR
1 1.000 0.040 11 407546 stop gained G/C snv 8.4E-06 2.1E-05 0.010 1.000 1 2015 2015