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: rs112741962
rs112741962
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
1 1.000 0.080 3 48467394 missense variant G/C snv 1.2E-04 4.6E-04 0.700 0
dbSNP: rs113107733
rs113107733
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
1 1.000 0.080 3 48467334 missense variant G/A snv 1.3E-04 5.0E-04 0.700 0
dbSNP: rs1307379746
rs1307379746
BLK ; LOC105379241
1 1.000 0.080 8 11556804 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs141865425
rs141865425
BLK ; LOC105379241
1 1.000 0.080 8 11555425 missense variant G/A snv 3.1E-03 3.0E-03 0.700 0
dbSNP: rs146505280
rs146505280
BLK
1 1.000 0.080 8 11561347 missense variant C/T snv 8.6E-04 6.4E-04 0.700 0
dbSNP: rs1565789104
rs1565789104
KMT2D
2 0.925 0.120 12 49038730 frameshift variant G/- delins 0.700 0
dbSNP: rs73663163
rs73663163
BLK
1 1.000 0.080 8 11550181 missense variant C/A;G;T snv 2.0E-03; 5.2E-04 0.700 0
dbSNP: rs758750492
rs758750492
BLK
1 1.000 0.080 8 11561320 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs760838030
rs760838030
TREX1 ; ATRIP ; ATRIP-TREX1
5 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs780022923
rs780022923
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
1 1.000 0.080 3 48467572 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs10798269
rs10798269
TNFSF4 ; LOC100506023
1 1.000 0.080 1 173340574 intergenic variant A/G;T snv 0.810 1.000 1 2008 2008
dbSNP: rs7329174
rs7329174
ELF1
3 0.882 0.120 13 40983974 intron variant A/G snv 4.5E-02 0.810 1.000 1 2011 2011
dbSNP: rs10466455
rs10466455
LOC102723568
1 1.000 0.080 11 34759389 intergenic variant T/C snv 0.39 0.800 1.000 1 2014 2014
dbSNP: rs10845606
rs10845606
GPR19
1 1.000 0.080 12 12681960 intron variant C/A snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs10911628
rs10911628 		1 1.000 0.080 1 184680369 intergenic variant C/A snv 9.4E-02 0.800 1.000 1 2014 2014
dbSNP: rs10946940
rs10946940 		1 1.000 0.080 6 27592808 upstream gene variant A/C;G snv 0.800 1.000 1 2014 2014
dbSNP: rs11073328
rs11073328
FAM98B
1 1.000 0.080 15 38472642 intron variant C/T snv 9.3E-02 0.800 1.000 1 2014 2014
dbSNP: rs11655550
rs11655550 		1 1.000 0.080 17 39453870 upstream gene variant T/C snv 0.16 0.800 1.000 1 2014 2014
dbSNP: rs1167796
rs1167796
HIP1
1 1.000 0.080 7 75543861 intron variant G/A snv 0.32 0.800 1.000 1 2009 2009
dbSNP: rs11697848
rs11697848 		1 1.000 0.080 20 49958778 downstream gene variant C/T snv 3.6E-02 0.800 1.000 1 2014 2014
dbSNP: rs12822507
rs12822507
CREBL2
1 1.000 0.080 12 12620587 intron variant A/G snv 0.32 0.800 1.000 1 2013 2013
dbSNP: rs131654
rs131654
UBE2L3
1 1.000 0.080 22 21562901 intron variant G/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs1913517
rs1913517
WDFY4 ; LRRC18
2 0.925 0.120 10 48911009 intron variant A/G snv 0.54 0.800 1.000 1 2009 2009
dbSNP: rs2254546
rs2254546 		6 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 0.800 1.000 1 2013 2013