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: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.730 1.000 3 2016 2019
dbSNP: rs5743890
rs5743890
TOLLIP
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.830 1.000 3 2013 2019
dbSNP: rs111521887
rs111521887
TOLLIP
1 1.000 0.040 11 1291476 intron variant C/G snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs17690703
rs17690703
MAPT-AS1
4 0.882 0.160 17 45847931 intron variant C/T snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs2305619
rs2305619
PTX3 ; VEPH1
3 0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50 0.010 1.000 1 2012 2012
dbSNP: rs2744371
rs2744371
DSP
2 0.925 0.080 6 7553941 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs28673968
rs28673968
LOC105377329
1 1.000 0.040 4 89655739 intron variant T/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs5743894
rs5743894
TOLLIP ; LOC105376512
1 1.000 0.040 11 1303542 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs628977
rs628977
ADAM33
4 0.851 0.160 20 3669074 intron variant T/C snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs733590
rs733590
CDKN1A ; DINOL
3 0.882 0.120 6 36677426 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2011 2011
dbSNP: rs1881984
rs1881984 		1 1.000 0.040 3 169746671 intergenic variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs8182352
rs8182352 		5 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs397728201
rs397728201
SFTPA1
4 0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs398123017
rs398123017
RTEL1 ; RTEL1-TNFRSF6B
4 0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs1554043139
rs1554043139
TERT
2 0.925 0.040 5 1294810 stop gained C/G;T snv 0.700 0
dbSNP: rs74597325
rs74597325
CFTR
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs776525427
rs776525427
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63695387 stop gained C/G;T snv 1.0E-05 7.0E-06 0.700 0
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.030 1.000 3 2010 2019