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: rs304496
rs304496
LIPA
1 10 89387005 intron variant A/G snv 0.96 0.010 < 0.001 1 2017 2017
dbSNP: rs1388585
rs1388585 		1 12 40137889 downstream gene variant G/A snv 0.95 0.700 1.000 1 2015 2015
dbSNP: rs4959235
rs4959235
SLC22A23
2 1.000 0.120 6 3359103 intron variant T/C snv 0.95 0.010 < 0.001 1 2014 2014
dbSNP: rs1049526
rs1049526
BRD2
3 0.925 0.040 6 32981027 3 prime UTR variant C/T snv 0.93 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016
dbSNP: rs2395022
rs2395022
KPNA7
1 7 99152756 intergenic variant A/C snv 0.93 0.700 1.000 1 2015 2015
dbSNP: rs9313808
rs9313808 		1 5 159393836 intron variant A/G snv 0.89 0.700 1.000 1 2015 2015
dbSNP: rs9271366
rs9271366 		9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.710 1.000 2 2011 2015
dbSNP: rs1734907
rs1734907 		4 0.925 0.080 7 100717894 upstream gene variant A/G snv 0.84 0.800 1.000 1 2012 2012
dbSNP: rs2816958
rs2816958
NR5A2
6 0.827 0.120 1 200132792 intron variant A/G snv 0.84 0.700 1.000 2 2015 2017
dbSNP: rs6569648
rs6569648
L3MBTL3
7 1.000 0.080 6 130027974 intron variant C/T snv 0.84 0.010 1.000 1 2014 2014
dbSNP: rs2847278
rs2847278 		1 18 12778716 upstream gene variant C/T snv 0.83 0.700 1.000 1 2015 2015
dbSNP: rs2542151
rs2542151 		11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs2328546
rs2328546
CDKAL1
1 6 20657114 intron variant T/C snv 0.81 0.700 1.000 1 2015 2015
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.800 1.000 1 2012 2012
dbSNP: rs1569723
rs1569723 		6 0.851 0.280 20 46113425 upstream gene variant C/A snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs1816702
rs1816702
TLR2
6 0.827 0.120 4 153688371 non coding transcript exon variant T/C snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs7796976
rs7796976
AHR ; LOC101927609
3 0.925 0.040 7 17298806 5 prime UTR variant A/G snv 0.79 0.010 1.000 1 2016 2016
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 1.000 4 2008 2015
dbSNP: rs6708413
rs6708413
IL18RAP
2 1.000 0.040 2 102446909 intron variant G/A snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs2058660
rs2058660
IL18RAP
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs6740462
rs6740462
LOC105374780
2 1.000 0.040 2 65440138 intron variant C/A snv 0.78 0.800 1.000 2 2012 2015
dbSNP: rs8009169
rs8009169 		1 14 42813211 intergenic variant G/C snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs941823
rs941823
LINC00598
6 0.827 0.120 13 40439840 intron variant T/C snv 0.77 0.800 1.000 3 2012 2017
dbSNP: rs559928
rs559928 		6 0.827 0.120 11 64382898 intergenic variant T/C snv 0.77 0.800 1.000 2 2012 2015