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: rs35705950
rs35705950 		14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.900 0.971 34 2011 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.840 1.000 4 2008 2019
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: rs1061581
rs1061581
HSPA1A ; HSPA1L
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.010 1.000 1 2015 2015
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: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11568819
rs11568819
MMP7
2 1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs121917737
rs121917737
SFTPA2
5 0.827 0.080 10 79557264 missense variant C/A snv 0.800 1.000 1 2009 2009
dbSNP: rs121917738
rs121917738
SFTPA2
5 0.827 0.080 10 79557363 missense variant A/G snv 0.800 1.000 1 2009 2009
dbSNP: rs121917835
rs121917835
BMP1 ; SFTPC
2 0.925 0.040 8 22164010 missense variant T/A snv 0.010 1.000 1 2008 2008
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: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
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: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2009 2009
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: 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: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
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: rs62025270
rs62025270
LOC101929679
1 1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17 0.710 1.000 1 2017 2017