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: rs27434
rs27434
ERAP1
1 1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05 0.890 1.000 10 2009 2018
dbSNP: rs27037
rs27037
CAST
1 1.000 0.040 5 96758990 intron variant T/G snv 0.72 0.760 1.000 7 2010 2018
dbSNP: rs27980
rs27980
CAST ; ERAP1
1 1.000 0.040 5 96762191 3 prime UTR variant T/G snv 0.36 0.030 0.667 3 2016 2018
dbSNP: rs4333130
rs4333130
ANTXR2
1 1.000 0.040 4 80028675 intron variant C/G;T snv 0.820 1.000 3 2010 2016
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: rs11742270
rs11742270 		1 1.000 0.040 5 35881341 downstream gene variant G/A snv 0.20 0.710 0.500 2 2013 2016
dbSNP: rs17095830
rs17095830
ANO6
2 1.000 0.040 12 45381125 intron variant A/G snv 7.9E-02 0.810 1.000 2 2011 2013
dbSNP: rs1894399
rs1894399
IL1A
2 0.925 0.040 2 112782600 intron variant C/T snv 0.32 0.020 1.000 2 2012 2012
dbSNP: rs2242944
rs2242944 		1 1.000 0.040 21 39093252 intergenic variant G/A snv 0.46 0.810 1.000 2 2010 2010
dbSNP: rs26307
rs26307
ANKH ; OTULIN
1 1.000 0.040 5 14705556 3 prime UTR variant T/C snv 0.72 0.020 1.000 2 2005 2013
dbSNP: rs27038
rs27038
CAST ; ERAP1 ; LOC102724748
1 1.000 0.040 5 96777250 intron variant A/G snv 0.82 0.020 1.000 2 2011 2019
dbSNP: rs27356
rs27356
ANKH
1 1.000 0.040 5 14722332 intron variant C/G;T snv 0.020 1.000 2 2005 2013
dbSNP: rs27529
rs27529
ERAP1
1 1.000 0.040 5 96790605 missense variant A/G;T snv 0.62 0.710 1.000 2 2011 2019
dbSNP: rs27582
rs27582
CAST ; ERAP1
1 1.000 0.040 5 96762510 3 prime UTR variant G/A snv 0.36 0.020 1.000 2 2014 2016
dbSNP: rs3812571
rs3812571
SNAPC4
1 1.000 0.040 9 136380842 missense variant G/A;C snv 0.43 0.42 0.020 1.000 2 2010 2016
dbSNP: rs4349859
rs4349859
MICA-AS1
2 0.925 0.040 6 31398010 upstream gene variant G/A snv 3.1E-02 0.810 1.000 2 2011 2012
dbSNP: rs4389526
rs4389526
ANTXR2
1 1.000 0.040 4 80025321 intron variant T/A snv 0.59 0.810 1.000 2 2011 2018
dbSNP: rs4552569
rs4552569 		2 1.000 0.040 5 83877774 upstream gene variant C/T snv 0.75 0.810 1.000 2 2011 2013
dbSNP: rs469876
rs469876
ERAP1 ; LOC102724748
1 1.000 0.040 5 96785702 non coding transcript exon variant A/G snv 0.22 0.020 0.500 2 2012 2018
dbSNP: rs1004189
rs1004189
PIKFYVE
1 1.000 0.040 2 208349547 intron variant T/G snv 0.010 1.000 1 2009 2009
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: 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: 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