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: rs11575936
rs11575936
IFNGR1
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.030 1.000 3 1999 2007
dbSNP: rs1801690
rs1801690
APOH
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.010 1.000 1 1999 1999
dbSNP: rs554866571
rs554866571
CD22
1 1.000 0.080 19 35336077 missense variant C/G snv 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.040 1.000 4 2000 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2000 2002
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs16822805
rs16822805
HLA-DRB1
1 1.000 0.080 6 32584172 missense variant C/A;G;T snv 6.1E-04; 7.6E-03 0.010 1.000 1 2000 2000
dbSNP: rs17886882
rs17886882
HLA-DRB1
1 1.000 0.080 6 32584171 missense variant G/A;C;T snv 9.0E-04; 0.12 0.010 1.000 1 2000 2000
dbSNP: rs5746026
rs5746026
TNFRSF1B
1 1.000 0.080 1 12193005 missense variant G/A snv 2.7E-02 2.5E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs1050501
rs1050501
FCGR2B
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.100 1.000 16 2002 2019
dbSNP: rs1308699981
rs1308699981
FCGR3A
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.040 1.000 4 2002 2010
dbSNP: rs560051377
rs560051377
FCGR3B
5 0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.040 1.000 4 2002 2010
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.030 1.000 3 2002 2013
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.020 1.000 2 2002 2019