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: rs11190140
rs11190140
NKX2-3 ; LINC01475
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs4771332
rs4771332 		2 0.925 0.080 13 99418203 upstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7104956
rs7104956
AP2A2
1 1.000 0.080 11 993745 intron variant C/G;T snv 8.1E-05; 0.20; 5.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs59186511
rs59186511
UBAC2
1 1.000 0.080 13 99333984 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1887704
rs1887704
UBAC2
2 0.925 0.080 13 99322238 intron variant C/G snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs279548
rs279548
IL17RC
1 1.000 0.080 3 9928474 synonymous variant C/T snv 0.22 0.22 0.010 1.000 1 2019 2019
dbSNP: rs769025981
rs769025981
IL17RC
1 1.000 0.080 3 9918551 missense variant G/A;T snv 4.0E-05; 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs1154404
rs1154404
ADH5 ; LOC100507053
1 1.000 0.080 4 99087853 intron variant A/T snv 0.34 0.010 1.000 1 2007 2007
dbSNP: rs28730619
rs28730619
ADH5
1 1.000 0.080 4 99078074 intron variant T/C snv 0.17 0.010 1.000 1 2007 2007
dbSNP: rs828618
rs828618
DCBLD2
2 0.925 0.160 3 98822789 intron variant G/A snv 0.28 0.22 0.010 1.000 1 2012 2012
dbSNP: rs16840208
rs16840208
ST3GAL6 ; DCBLD2
2 0.925 0.240 3 98799533 missense variant C/T snv 2.1E-02 1.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs1442808
rs1442808 		1 1.000 0.080 15 98221618 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs114190122
rs114190122
CLSTN1
1 1.000 0.080 1 9819291 intron variant A/G snv 8.6E-03 0.700 1.000 1 2015 2015
dbSNP: rs10142119
rs10142119 		1 1.000 0.080 14 98020208 intergenic variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs4857304
rs4857304
RIOX2
1 1.000 0.080 3 97971479 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6924808
rs6924808 		1 1.000 0.080 6 97910699 intron variant G/A snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs14271
rs14271
PIK3CD ; CLSTN1
1 1.000 0.080 1 9729092 3 prime UTR variant C/T snv 2.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs17525488
rs17525488
LTA4H
1 1.000 0.080 12 96035660 intron variant T/- delins 0.010 1.000 1 2010 2010
dbSNP: rs2540493
rs2540493
LTA4H
1 1.000 0.080 12 96022064 intron variant A/C snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs1978331
rs1978331
LTA4H
5 0.827 0.200 12 96015423 intron variant A/G snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs62344088
rs62344088
PLEKHG4B
1 1.000 0.080 5 95949 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs7161179
rs7161179 		1 1.000 0.080 14 95621923 intron variant G/A snv 4.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2009 2009
dbSNP: rs4484658
rs4484658 		1 1.000 0.080 8 95196498 regulatory region variant C/T snv 0.12 0.700 1.000 1 2015 2015