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: rs445
rs445
CDK6
9 7 92779056 intron variant C/T snv 0.14 0.800 1.000 7 2010 2019
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.800 1.000 5 2012 2019
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 4 2016 2019
dbSNP: rs2524079
rs2524079
HLA-B
6 6 31274397 intron variant G/A snv 0.44 0.800 1.000 4 2011 2019
dbSNP: rs4794822
rs4794822 		3 17 40000459 downstream gene variant C/G;T snv 0.800 1.000 4 2011 2019
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.800 1.000 3 2011 2019
dbSNP: rs2340727
rs2340727 		2 1 161976937 intergenic variant A/G snv 0.33 0.800 1.000 3 2011 2019
dbSNP: rs2518564
rs2518564
AIM2
1 1 159092646 intron variant G/A snv 0.60 0.800 1.000 3 2011 2019
dbSNP: rs3747869
rs3747869
CDH23 ; VSIR
1 10 71760875 missense variant A/C snv 0.88 0.90 0.700 1.000 3 2016 2019
dbSNP: rs3917932
rs3917932
CSF3R
5 1 36478315 intron variant C/G snv 0.59 0.700 1.000 3 2016 2019
dbSNP: rs4065321
rs4065321
PSMD3
2 17 39987295 intron variant C/T snv 0.56 0.700 1.000 3 2010 2019
dbSNP: rs4657616
rs4657616
IFI16 ; PYDC5
2 1 159001296 intron variant A/G snv 0.31 0.800 1.000 3 2011 2019
dbSNP: rs56388170
rs56388170
CREB5
5 7 28684757 intron variant G/T snv 0.37 0.700 1.000 3 2016 2019
dbSNP: rs8078723
rs8078723 		3 1.000 0.080 17 40010626 upstream gene variant T/C snv 0.36 0.800 1.000 3 2011 2019
dbSNP: rs11264422
rs11264422 		1 1 155938032 upstream gene variant T/A snv 0.48 0.800 1.000 2 2011 2019
dbSNP: rs113760175
rs113760175
CASC15
3 6 22343363 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs114050631
rs114050631 		5 2 218156235 regulatory region variant C/T snv 6.9E-03 0.700 1.000 2 2016 2019
dbSNP: rs1144700
rs1144700
ATXN1
5 6 16744456 intron variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs11574938
rs11574938
ITGAL
6 0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 0.700 1.000 2 2016 2019
dbSNP: rs11642657
rs11642657 		3 16 85982722 intron variant C/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs11725704
rs11725704 		5 4 74094279 downstream gene variant A/G snv 0.28 0.700 1.000 2 2016 2019
dbSNP: rs12239046
rs12239046
NLRP3
9 1 247438293 intron variant T/C snv 0.58 0.700 1.000 2 2016 2019
dbSNP: rs12550612
rs12550612
TNFRSF10C
5 8 23109256 intron variant G/A snv 0.83 0.700 1.000 2 2016 2019
dbSNP: rs12600856
rs12600856 		5 17 40007042 intergenic variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs143034248
rs143034248
JAML
7 11 118210555 missense variant C/T snv 4.0E-03 3.5E-03 0.700 1.000 2 2016 2019