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: rs2292399
rs2292399
PPDPFL
1 1.000 8 49074671 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs370711144
rs370711144
IL16
1 1.000 15 81225649 missense variant G/A;T snv 2.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs7514229
rs7514229
TNFSF4
1 1.000 1 173185165 3 prime UTR variant G/T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1267634673
rs1267634673
THRB
2 0.925 0.040 3 24127628 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2069550
rs2069550
TG
2 0.925 0.120 8 132888141 synonymous variant T/C snv 0.58 0.60 0.010 1.000 1 2019 2019
dbSNP: rs2227478
rs2227478
IL22 ; LOC105369818
2 0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs2618431
rs2618431
FAM167A
2 0.925 0.120 8 11466955 intron variant A/G snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs1061502
rs1061502
IRF7
3 0.882 0.160 11 614318 missense variant T/C snv 0.25 0.33 0.010 1.000 1 2019 2019
dbSNP: rs12492609
rs12492609
TMEM39A
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs17593222
rs17593222
STAT3
3 0.925 0.120 17 42360972 intron variant C/G snv 6.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs2071400
rs2071400
TPO
3 0.882 0.120 2 1412867 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2276886
rs2276886
CXCL9
3 0.882 0.120 4 76007275 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2280381
rs2280381 		3 0.882 0.080 16 85985027 intron variant C/T snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs661561
rs661561
TNFAIP3
3 0.882 0.200 6 137876194 intron variant A/C snv 0.62 0.50 0.010 1.000 1 2014 2014
dbSNP: rs7629750
rs7629750
TMEM39A
3 0.882 0.040 3 119455829 intron variant A/G snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs853326
rs853326
TG
3 0.882 0.120 8 132897729 missense variant A/G snv 0.58 0.60 0.010 1.000 1 2019 2019
dbSNP: rs1131665
rs1131665
IRF7
4 0.851 0.160 11 613208 missense variant T/C snv 0.25 0.33 0.010 1.000 1 2019 2019
dbSNP: rs4840568
rs4840568
BLK
4 0.882 0.160 8 11493510 intron variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs17445836
rs17445836 		5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2900180
rs2900180
C5-OT1
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs3788013
rs3788013
UBASH3A
5 0.851 0.240 21 42421219 intron variant C/A snv 0.44 0.010 < 0.001 1 2014 2014
dbSNP: rs6479778
rs6479778
ARID5B
5 0.827 0.200 10 61929318 intron variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006