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: rs11742570
rs11742570 		3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.700 1.000 2 2015 2017
dbSNP: rs2243639
rs2243639
SFTPD
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.020 0.500 2 2009 2011
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs12261843
rs12261843
CCNY
1 1.000 0.040 10 35265126 intron variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs1332099
rs1332099 		14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1333062
rs1333062
ITLN1
6 0.807 0.200 1 160876494 downstream gene variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17207986
rs17207986
TNXB
1 1.000 0.040 6 32111790 non coding transcript exon variant T/C;G snv 0.810 1.000 1 2010 2010
dbSNP: rs2243191
rs2243191
IL19 ; LOC105372878
2 1.000 0.040 1 206842612 missense variant T/C;G snv 0.71; 5.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs2310173
rs2310173 		2 0.925 0.080 2 102047167 intron variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs2542152
rs2542152 		2 0.925 0.040 18 12782762 downstream gene variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4921482
rs4921482
LOC285626
6 0.807 0.120 5 159337470 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs7097656
rs7097656
TSPAN14
6 0.827 0.120 10 80491075 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs73178598
rs73178598
LOC105376976
5 0.827 0.120 3 18763719 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs8126756
rs8126756
IFNGR2
3 0.925 0.040 21 33403138 5 prime UTR variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs17085007
rs17085007 		7 0.827 0.120 13 26957130 regulatory region variant T/C snv 0.16 0.820 1.000 8 2009 2017
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.040 1.000 4 2014 2018
dbSNP: rs7848647
rs7848647
TNFSF15
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.730 1.000 4 2014 2018
dbSNP: rs941823
rs941823
LINC00598
6 0.827 0.120 13 40439840 intron variant T/C snv 0.77 0.800 1.000 4 2011 2017
dbSNP: rs11168249
rs11168249
HDAC7
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.700 1.000 3 2015 2017
dbSNP: rs12568930
rs12568930 		4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.800 1.000 3 2009 2017
dbSNP: rs16940202
rs16940202 		2 1.000 0.040 16 85980635 intron variant T/C snv 0.15 0.800 1.000 3 2011 2017
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.720 0.667 3 2010 2017
dbSNP: rs7404095
rs7404095
PRKCB
6 0.827 0.120 16 23853269 intron variant T/C snv 0.58 0.700 1.000 3 2015 2017