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: rs1529927
rs1529927
SLC12A3
1 1.000 0.040 16 56870675 missense variant C/G snv 1.6E-05; 0.98 0.98 0.010 1.000 1 2004 2004
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2006 2006
dbSNP: rs5253
rs5253
CLCNKB
1 1.000 0.040 1 16053701 missense variant T/C snv 0.93 0.89 0.010 1.000 1 2015 2015
dbSNP: rs3791124
rs3791124
SLC6A9
1 1.000 0.040 1 43998533 intron variant A/G snv 0.86 0.010 1.000 1 2009 2009
dbSNP: rs4944831
rs4944831
P2RY2
1 1.000 0.040 11 73223683 intron variant G/T snv 0.83 0.010 1.000 1 2010 2010
dbSNP: rs699512
rs699512
BLVRA ; LOC102724946
2 0.925 0.120 7 43771165 missense variant G/A snv 0.80 0.83 0.010 1.000 1 2011 2011
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs696574
rs696574
CALCRL ; LOC105373786
1 1.000 0.040 2 187363789 intron variant T/C snv 0.80 0.010 1.000 1 2005 2005
dbSNP: rs17197
rs17197
PTGER2
1 1.000 0.040 14 52327663 3 prime UTR variant G/A snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs2016520
rs2016520
PPARD
16 0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs6543116
rs6543116
IL1RL1
3 0.882 0.120 2 102311266 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs2604204
rs2604204
KCNJ5
3 0.882 0.120 11 128917535 3 prime UTR variant G/T snv 0.74 0.020 1.000 2 2013 2017
dbSNP: rs10501367
rs10501367
APLNR
2 1.000 0.040 11 57238113 upstream gene variant T/C snv 0.73 0.020 1.000 2 2010 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.040 0.750 4 2013 2017
dbSNP: rs2275166
rs2275166
CLCNKB
1 1.000 0.040 1 16053748 missense variant A/G snv 0.65 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.060 0.833 6 2008 2018
dbSNP: rs11959427
rs11959427
ADRB2
1 1.000 0.040 5 148826465 5 prime UTR variant C/T snv 0.68 0.010 < 0.001 1 2015 2015
dbSNP: rs762551
rs762551
CYP1A2
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs5516
rs5516
KLK1
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.020 1.000 2 2007 2011
dbSNP: rs3890011
rs3890011
CYP4A11
3 0.925 0.040 1 46933071 intron variant G/C snv 0.71 0.65 0.010 1.000 1 2017 2017
dbSNP: rs2304682
rs2304682
KHK ; EMILIN1
2 1.000 0.040 2 27084901 intron variant G/C snv 0.65 0.010 1.000 1 2010 2010
dbSNP: rs2336384
rs2336384
MFN2
2 1.000 0.040 1 11986006 intron variant G/T snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 1.000 1 2016 2016
dbSNP: rs2071749
rs2071749
HMOX1
2 0.925 0.120 22 35387420 intron variant A/G snv 0.64 0.010 1.000 1 2011 2011
dbSNP: rs3802230
rs3802230
CYP11B2 ; GML
3 1.000 0.040 8 142911448 3 prime UTR variant C/A snv 0.63 0.010 1.000 1 2011 2011