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: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 1.000 2 2018 2019
dbSNP: rs1002658
rs1002658 		1 1.000 0.120 6 137660447 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs10881578
rs10881578
RXRA
2 0.925 0.240 9 134340689 intron variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs11039155
rs11039155
NR1H3
6 0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2281997
rs2281997
ENHO
5 0.882 0.240 9 34521869 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2292779
rs2292779
AGO2
4 0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs2425752
rs2425752
NCOA5
4 0.851 0.160 20 46073481 intron variant T/C snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2018 2018
dbSNP: rs649775
rs649775 		3 0.882 0.120 6 33716536 upstream gene variant A/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs6565176
rs6565176 		1 1.000 0.120 16 30163605 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs7111520
rs7111520
POU2AF1
1 1.000 0.120 11 111378886 intron variant G/A snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs7120118
rs7120118
NR1H3
18 0.716 0.360 11 47264739 intron variant T/C snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs9657182
rs9657182
IDO1
6 0.851 0.280 8 39908329 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2017 2019
dbSNP: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 2 2017 2017
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 1.000 2 2017 2018
dbSNP: rs11715604
rs11715604
NCK1
4 0.851 0.160 3 136870707 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs131821
rs131821
NCAPH2
4 0.851 0.160 22 50511648 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs149207840
rs149207840
SP140
4 0.851 0.160 2 230279864 intron variant CTGCCTC/-;CTGCCTCCTGCCTC delins 0.15 0.700 1.000 1 2017 2017
dbSNP: rs181181503
rs181181503
LOC100507377
4 0.851 0.160 12 74276187 intron variant T/C snv 1.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs210143
rs210143
BAK1 ; GGNBP1
6 0.827 0.160 6 33579153 intron variant T/C snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2017 2017