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: rs62149416
rs62149416
LINC01185
2 0.925 0.040 2 60856371 intron variant T/C snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs7536201
rs7536201
RUNX3
2 0.925 0.040 1 24966593 upstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7637230
rs7637230
LINC02085
2 0.925 0.040 3 101944711 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7709212
rs7709212
LOC285626
2 0.925 0.040 5 159337169 intron variant T/C snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs892085
rs892085
QTRT1
2 0.925 0.040 19 10707416 intron variant G/A snv 0.57 0.59 0.700 1.000 1 2015 2015
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs9394026
rs9394026
MUC22
1 1.000 0.040 6 31014767 intron variant G/A snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 1.000 2 2018 2018
dbSNP: rs1250544
rs1250544
ZMIZ1
3 0.882 0.080 10 79273128 intron variant G/A snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs1800024
rs1800024
CCR5 ; CCR5AS
2 0.925 0.080 3 46371068 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs181359
rs181359
UBE2L3
3 0.882 0.080 22 21574352 intron variant G/A snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs4683946
rs4683946 		2 0.925 0.080 3 101896982 intron variant G/T snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs9988642
rs9988642
IL23R
3 0.882 0.080 1 67260421 downstream gene variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs4722404
rs4722404 		4 0.851 0.120 7 3089155 intron variant T/C snv 0.40 0.020 1.000 2 2016 2017
dbSNP: rs10865331
rs10865331 		5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2287987
rs2287987
ERAP1
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.010 1.000 1 2018 2018
dbSNP: rs2442598
rs2442598
ANGPT2 ; MCPH1
2 0.925 0.120 8 6537300 intron variant T/C snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs28998802
rs28998802
NOS2
6 0.807 0.120 17 27797882 intron variant G/A snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs367569
rs367569
RMI2 ; LOC105371082
6 0.807 0.120 16 11271643 intron variant C/T snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs4561177
rs4561177
RDX ; ZC3H12C
6 0.807 0.120 11 110091706 intron variant A/G snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs6474412
rs6474412 		4 0.925 0.120 8 42695355 upstream gene variant C/T snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs7552167
rs7552167 		6 0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs878329
rs878329 		4 0.882 0.120 17 5649930 intergenic variant G/C snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs27524
rs27524
CAST ; ERAP1
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018