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: rs1001007
rs1001007
CCR5AS
5 0.827 0.120 3 46387167 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10019009
rs10019009
DMP1 ; LOC105377323
4 0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1004189
rs1004189
PIKFYVE
1 1.000 0.040 2 208349547 intron variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1004234
rs1004234
IRF1-AS1 ; LINC02863
5 0.827 0.120 5 132421409 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10045403
rs10045403
ERAP1
3 0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.020 < 0.001 2 2013 2014
dbSNP: rs10050860
rs10050860
ERAP1
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.790 0.900 10 2010 2019
dbSNP: rs10065172
rs10065172
IRGM
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs10094579
rs10094579 		6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1009759
rs1009759
PDCD1LG2
1 1.000 0.040 9 5556786 intron variant A/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1013210
rs1013210 		1 1.000 0.040 8 24259209 intergenic variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs10208769
rs10208769
USP34
1 1.000 0.040 2 61378479 intron variant T/A snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1024446168
rs1024446168
SYN1 ; TIMP1
1 1.000 0.040 X 47583421 synonymous variant C/A snv 1.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs10280089
rs10280089 		1 1.000 0.040 7 38667217 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10440635
rs10440635 		2 1.000 0.040 5 40490688 intron variant G/A snv 0.56 0.810 1.000 2 2011 2013
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2017 2017
dbSNP: rs1048274
rs1048274
IL33 ; LOC107987046
1 1.000 0.040 9 6256292 3 prime UTR variant G/A snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs10489630
rs10489630
IL23R ; C1orf141
2 0.925 0.040 1 67196939 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10494829
rs10494829
KIF21B
1 1.000 0.040 1 200968901 downstream gene variant G/A snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs1050501
rs1050501
FCGR2B
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 < 0.001 1 2012 2012
dbSNP: rs10510607
rs10510607
CMC1
5 0.827 0.120 3 28244770 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs1053005
rs1053005
STAT3
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1055234
rs1055234
CNOT3
1 1.000 0.040 19 54154264 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2012 2012