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: rs10484389
rs10484389
CASC15
1 6 22075033 intron variant C/T snv 6.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs11025185
rs11025185
NAV2
1 11 19572259 intron variant G/A snv 2.4E-03 0.700 1.000 1 2014 2014
dbSNP: rs1432133
rs1432133
GABRG3
1 15 26983199 intron variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs17568725
rs17568725 		1 5 171743637 TF binding site variant C/A snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs2174866
rs2174866
LOC107983981
1 15 53172023 intergenic variant A/T snv 6.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs4467099
rs4467099
LOC400499
1 16 11449038 missense variant C/A;T snv 0.66 0.700 1.000 1 2014 2014
dbSNP: rs7518687
rs7518687
LOC105371604
1 1 168663745 intergenic variant A/T snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs8014067
rs8014067
SYT16
1 14 62086539 intron variant A/T snv 0.79 0.700 1.000 1 2014 2014
dbSNP: rs9522267
rs9522267 		1 13 111544020 intergenic variant G/A snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.040 0.750 4 2011 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 < 0.001 1 2013 2013
dbSNP: rs1047782
rs1047782
TDP2
1 6 24650503 3 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10853728
rs10853728 		5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2013 2013
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2017 2017
dbSNP: rs12583006
rs12583006
TNFSF13B
8 0.807 0.320 13 108285104 intron variant T/A snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs17879702
rs17879702
HLA-DRB1
2 1.000 0.080 6 32584346 missense variant G/A snv 3.2E-02 5.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs1879026
rs1879026
TLR3
3 1.000 0.080 4 186079167 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1898830
rs1898830
TLR2
10 0.807 0.280 4 153687301 intron variant A/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2149356
rs2149356
TLR4
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2237061
rs2237061
CXCL14
2 1.000 0.080 5 135576640 intron variant C/T snv 8.4E-02 0.010 1.000 1 2019 2019