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: rs10840002
rs10840002 		3 0.882 0.080 11 8221479 downstream gene variant A/G snv 0.49 0.040 1.000 4 2016 2020
dbSNP: rs4758051
rs4758051 		3 0.882 0.080 11 8217092 intergenic variant G/A snv 0.42 0.040 1.000 4 2016 2020
dbSNP: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 0.020 1.000 2 2014 2018
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1027702
rs1027702 		3 0.882 0.080 1 161743067 intergenic variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs11103603
rs11103603 		4 0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs12442054
rs12442054 		3 0.882 0.080 15 74165683 intron variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs45511401
rs45511401
ABCC1
4 0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs514049
rs514049
ADAM10
6 0.827 0.160 15 58750164 intron variant C/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs653765
rs653765
ADAM10
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs2271338
rs2271338
ADGRL3
5 0.827 0.080 4 61996533 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs729147
rs729147
ADH7
3 0.882 0.080 4 99412110 downstream gene variant G/A snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs773249771
rs773249771
ADRA1A
3 0.882 0.080 8 26864314 missense variant T/C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1442511697
rs1442511697
ADRA2B
3 0.882 0.080 2 96115494 missense variant T/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.100 1.000 15 2008 2019
dbSNP: rs863225281
rs863225281
ALK
12 0.776 0.200 2 29220829 missense variant G/C;T snv 0.100 1.000 15 2008 2019
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.100 0.900 10 2011 2019
dbSNP: rs863225285
rs863225285
ALK
5 0.851 0.080 2 29209789 missense variant T/G snv 0.020 1.000 2 2017 2018
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs121909536
rs121909536
ANG ; RNASE4
5 0.827 0.120 14 20693686 missense variant A/T snv 1.2E-03 9.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs121909539
rs121909539
ANG ; RNASE4
5 0.827 0.120 14 20693753 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019