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: rs320995
rs320995
CYSLTR1
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.010 1.000 1 2006 2006
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 3 2011 2015
dbSNP: rs16999165
rs16999165 		1 1.000 0.120 20 54190682 intergenic variant A/G snv 5.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs2248359
rs2248359
CYP24A1
8 0.790 0.400 20 54174979 upstream gene variant C/T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs2853209
rs2853209
ADAM33
5 0.827 0.200 20 3670825 intron variant T/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs4809219
rs4809219
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.120 20 63671762 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs909341
rs909341
TNFRSF6B ; RTEL1-TNFRSF6B
1 1.000 0.120 20 63697389 synonymous variant C/T snv 0.25 0.19 0.700 1.000 1 2015 2015
dbSNP: rs2164983
rs2164983 		2 0.925 0.120 19 8679120 downstream gene variant C/A;G snv 0.19 0.810 1.000 3 2011 2015
dbSNP: rs1221479287
rs1221479287
KIR2DL1 ; KIR2DS1 ; KIR2DS4 ; KIR3DL1
2 0.925 0.120 19 54783499 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2059876
rs2059876
CHST8
2 0.925 0.120 19 33639430 intron variant C/T snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs2918307
rs2918307 		1 1.000 0.120 19 8679458 downstream gene variant A/G;T snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs3219177
rs3219177
RETN
2 0.925 0.120 19 7669483 intron variant C/T snv 0.20 0.19 0.010 < 0.001 1 2018 2018
dbSNP: rs3745367
rs3745367
RETN
8 0.827 0.200 19 7669625 intron variant G/A snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs380743
rs380743
RASIP1
2 0.925 0.120 19 48737757 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs436857
rs436857
IL12RB1
2 0.925 0.120 19 18086825 5 prime UTR variant G/A snv 0.16 0.17 0.010 1.000 1 2005 2005
dbSNP: rs438421
rs438421
IL12RB1
3 0.882 0.200 19 18065276 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs612529
rs612529
VSTM1
2 0.925 0.120 19 54063999 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs73510898
rs73510898
ZGLP1
2 0.925 0.120 19 10305768 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs9952991
rs9952991 		2 0.925 0.120 18 12780465 upstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10445308
rs10445308
IKZF3
5 0.851 0.240 17 39781794 intron variant C/T snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 < 0.001 1 2018 2018
dbSNP: rs11079788
rs11079788
TBX21
2 0.925 0.120 17 47743357 intron variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs11150780
rs11150780
SLC38A10
2 0.925 0.120 17 81290360 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1343795
rs1343795
ZNF652
5 0.882 0.120 17 49334880 intron variant C/A snv 0.78 0.010 1.000 1 2018 2018