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: rs2524079
rs2524079
HLA-B
6 6 31274397 intron variant G/A snv 0.44 0.800 1.000 4 2011 2019
dbSNP: rs2518564
rs2518564
AIM2
1 1 159092646 intron variant G/A snv 0.60 0.800 1.000 3 2011 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: rs113760175
rs113760175
CASC15
3 6 22343363 intron variant G/A;T snv 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: rs11642657
rs11642657 		3 16 85982722 intron variant C/A;T snv 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: rs1700159
rs1700159
ACVRL1
4 1.000 0.040 12 51912002 intron variant C/A;G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs2038700
rs2038700
STXBP6
7 14 24992783 intron variant T/C snv 0.53 0.700 1.000 2 2016 2019
dbSNP: rs2158799
rs2158799
JAZF1-AS1
5 7 28237488 intron variant C/G;T snv 0.70 0.700 1.000 2 2016 2019
dbSNP: rs247826
rs247826
MEAK7
2 16 84549359 intron variant C/T snv 0.18 0.700 1.000 2 2016 2019
dbSNP: rs2853946
rs2853946
HLA-B
2 6 31279426 intron variant A/G;T snv 0.37 0.700 1.000 2 2014 2019
dbSNP: rs333947
rs333947
CSF1
7 1 109928142 intron variant G/A snv 0.13 0.700 1.000 2 2016 2019
dbSNP: rs3859192
rs3859192
GSDMA
3 0.925 0.080 17 39972395 intron variant C/T snv 0.42 0.800 1.000 2 2012 2019
dbSNP: rs56011263
rs56011263
PCGF3
1 4 709183 intron variant T/C snv 0.35 0.700 1.000 2 2016 2019
dbSNP: rs6684709
rs6684709
E2F2 ; LOC101928163
1 1 23523531 intron variant G/C snv 0.50 0.700 1.000 2 2016 2019
dbSNP: rs7036656
rs7036656
CDKN2A
1 9 21990458 intron variant C/T snv 0.74 0.700 1.000 2 2016 2019
dbSNP: rs76428106
rs76428106
FLT3
10 0.851 0.040 13 28029870 intron variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs7846314
rs7846314
CHD7
5 8 60738272 intron variant A/T snv 0.27 0.700 1.000 2 2016 2019