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: rs1678542
rs1678542
KIF5A
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs3131379
rs3131379
MSH5 ; MSH5-SAPCD1
10 0.752 0.440 6 31753256 intron variant G/A snv 6.4E-02 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1341239
rs1341239
PRL ; CASC15
8 0.776 0.360 6 22303975 intron variant A/C snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2008 2015
dbSNP: rs12938
rs12938
SELL ; C1orf112
5 0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs11889341
rs11889341
STAT4
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs12583006
rs12583006
TNFSF13B
8 0.807 0.320 13 108285104 intron variant T/A snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2019 2019
dbSNP: rs7848647
rs7848647
TNFSF15
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10489265
rs10489265
TNFSF4 ; LOC100506023
5 0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs370504038
rs370504038
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
4 0.851 0.160 3 48467569 missense variant A/G snv 1.2E-04 1.2E-04 0.010 1.000 1 2011 2011